D. S. Shouval, J. Ouahed, and A. Biswas, Interleukin 10 receptor signaling: master regulator of intestinal mucosal homeostasis in mice and humans, Adv Immunol, vol.122, pp.177-210, 2014.

B. Begue, J. Verdier, and F. Rieux-laucat, Defective IL10 signaling defining a subgroup of patients with inflammatory bowel disease, Am J Gastroenterol, vol.106, issue.8, pp.1544-55, 2011.

E. O. Glocker, D. Kotlarz, and K. Boztug, Inflammatory bowel disease and mutations affecting the interleukin-10 receptor, N Engl J Med, vol.361, issue.21, pp.2033-2078, 2009.

B. Neven, E. Mamessier, and J. Bruneau, A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency, Blood, vol.122, issue.23, pp.3713-3735, 2013.
URL : https://hal.archives-ouvertes.fr/hal-01765647

B. Li, A. R. Vogel, and P. , IL-10 modulates DSS-induced colitis through a macrophage-ROS-NO axis, Mucosal Immunol, vol.7, issue.4, pp.869-78, 2014.

E. Zigmond, B. Bernshtein, and G. Friedlander, Macrophage-restricted interleukin-10 receptor deficiency, but not IL-10 deficiency, causes severe spontaneous colitis, Immunity, vol.40, issue.5, pp.720-753, 2014.

Z. Li, M. Gakovic, and J. Ragimbeau, Two rare disease-associated Tyk2 variants are catalytically impaired but signaling competent, J Immunol, vol.190, issue.5, pp.2335-2379, 2013.
URL : https://hal.archives-ouvertes.fr/pasteur-02071008

S. Pestka, C. D. Krause, and D. Sarkar, Interleukin-10 and related cytokines and receptors, Annu Rev Immunol, vol.22, pp.929-79, 2004.

K. R. Engelhardt, N. Shah, and I. Faizura-yeop, Clinical outcome in IL

, receptor-deficient patients with or without hematopoietic stem cell transplantation, J Allergy Clin Immunol, vol.131, issue.3, pp.825-855, 2013.

D. Kotlarz, R. Beier, and D. Murugan, Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy, Gastroenterology, vol.143, issue.2, pp.347-55, 2012.

B. Pigneur, J. Escher, and M. Elawad, Phenotypic characterization of very early-onset IBD due to mutations in the IL10, IL10 receptor alpha or beta gene: a survey of the Genius Working Group, Inflamm Bowel Dis, vol.19, issue.13, pp.2820-2828, 2013.

J. O. Shim and J. K. Seo, Very early-onset inflammatory bowel disease (IBD) in infancy is a different disease entity from adult-onset IBD; one form of interleukin-10 receptor mutations, J Hum Genet, vol.59, issue.6, pp.337-378, 2014.

C. H. Lee, P. Hsu, and B. Nanan, Novel de novo mutations of the interleukin-10 receptor gene lead to infantile onset inflammatory bowel disease, J Crohn's Colitis, vol.8, issue.11, pp.1551-1557, 2014.

H. Mao, W. Yang, P. P. Lee, and M. H. Ho, Exome sequencing identifies novel compound heterozygous mutations of IL-10 receptor 1 in neonatal-onset Crohn's disease, Genes Immun, vol.13, issue.5, pp.437-479, 2012.

M. F. Richter, G. Dumenil, and G. Uze, Specific contribution of Tyk2 JH regions to the binding and the expression of the interferon alpha/beta receptor component IFNAR1, J Biol Chem, vol.273, issue.38, pp.24723-24732, 1998.

H. J. Wallweber, C. Tam, and Y. Franke, Structural basis of recognition of interferon-alpha receptor by tyrosine kinase 2, Nat Struct Mol Biol, vol.21, issue.5, pp.443-451, 2014.

H. H. Uhlig, Monogenic diseases associated with intestinal inflammation: implications for the understanding of inflammatory bowel disease, Gut, vol.62, issue.12, pp.1795-805, 2013.

H. H. Uhlig, Monogenic diseases associated with intestinal inflammation: implications for the understanding of inflammatory bowel disease, Gut, vol.62, pp.1795-805, 2013.

S. E. Flanagan, E. Haapaniemi, and M. A. Russell, Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease, Nat Genet, vol.46, pp.812-816, 2014.

J. W. Verbsky and T. A. Chatila, Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related disorders: an evolving web of heritable autoimmune diseases, Curr Opin Pediatr, vol.25, pp.708-722, 2013.

R. Perez-de-diego, S. Sanchez-ramon, and E. Lopez-collazo, Genetic errors of the human caspase recruitment domain-B-cell lymphoma 10-mucosa-associated lymphoid tissue lymphoma-translocation gene 1 (CBM) complex: Molecular, immunologic, and clinical heterogeneity, J Allergy Clin Immunol, vol.136, pp.1139-1188, 2015.

H. H. Jabara, T. Ohsumi, and J. Chou, A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency, J Allergy Clin Immunol, vol.132, pp.151-159, 2013.

M. L. Mckinnon, J. Rozmus, and S. Y. Fung, Combined immunodeficiency associated with homozygous MALT1 mutations, J Allergy Clin Immunol, vol.133, pp.62-63, 2014.

D. Punwani, H. Wang, and A. Y. Chan, Combined immunodeficiency due to MALT1 mutations, treated by hematopoietic cell transplantation, J Clin Immunol, vol.35, pp.135-181, 2015.

V. Lampasona, L. Passerini, and F. Barzaghi, Autoantibodies to harmonin and villin are diagnostic markers in children with IPEX syndrome, PloS One, vol.8, p.78664, 2013.

N. Patey-mariaud-de-serre, D. Canioni, and S. Ganousse, Digestive histopathological presentation of IPEX syndrome, Mod Pathol, vol.22, pp.95-102, 2009.

T. Klein, S. Y. Fung, and F. Renner, The paracaspase MALT1 cleaves HOIL1 reducing linear ubiquitination by LUBAC to dampen lymphocyte NF-kappaB signalling, Nat Commun, vol.6, p.8777, 2015.

N. Moes, F. Rieux-laucat, and B. Begue, Reduced expression of FOXP3 and regulatory T-cell function in severe forms of early-onset autoimmune enteropathy, Gastroenterology, vol.139, pp.770-778, 2010.
URL : https://hal.archives-ouvertes.fr/hal-00519699

Y. Harpaz and C. Chothia, Many of the immunoglobulin superfamily domains in cell adhesion molecules and surface receptors belong to a new structural set which is close to that containing variable domains, J Mol Biol, vol.238, pp.528-567, 1994.

M. H. Ultsch, C. Wiesmann, and L. C. Simmons, Crystal structures of the neurotrophin-binding domain of TrkA, TrkB and TrkC, J Mol Biol, vol.290, pp.149-59, 1999.

P. C. Lucas, M. Yonezumi, and N. Inohara, Bcl10 and MALT1, independent targets of chromosomal translocation in malt lymphoma, cooperate in a novel NF-kappa B signaling pathway, J Biol Chem, vol.276, pp.19012-19021, 2001.

M. Jaworski, B. J. Marsland, and J. Gehrig, Malt1 protease inactivation efficiently dampens immune responses but causes spontaneous autoimmunity, EMBO J, vol.33, pp.2765-81, 2014.

A. Brustle, D. Brenner, and C. B. Knobbe-thomsen, MALT1 is an intrinsic regulator of regulatory T cells IV

F. Charbit-henrion, M. Parlato, S. Hanein, and B. Begue,

S. Loras, J. Rakotobe, J. Nowak, C. Bruneau, O. Fourrages et al.,

G. Diaz, *. , Y. Gonzalez-lama, *. , O. Goulet et al.,

*. Lewindon, R. Lima, *. , F. Magro, *. et al.,

C. Pelatan, *. , B. Pigneur, *. , I. Pinto-pais et al.,

*. Siala, C. Strisciuglio, *. , M. Tempia, *. et al., Immune dysregulation, polyendocrinopathy, enteropathy, Xlinked (IPEX) and IPEX-related disorders: an evolving web of heritable autoimmune diseases, Nadine Cerf-Bensussan REFERENCES, vol.1, issue.6, pp.708-722, 2013.

H. H. Uhlig, Monogenic diseases associated with intestinal inflammation: implications for the understanding of inflammatory bowel disease, Gut, vol.62, issue.12, pp.1795-805, 2013.

R. B. Canani, G. Castaldo, R. Bacchetta, M. G. Martin, and O. Goulet, Congenital diarrhoeal disorders: advances in this evolving web of inherited enteropathies, Nat Rev Gastroenterol Hepatol, vol.12, issue.5, pp.293-302, 2015.

C. Picard and A. Fischer, Contribution of high-throughput DNA sequencing to the study of primary immunodeficiencies, Eur J Immunol, vol.44, issue.10, pp.2854-61, 2014.

J. L. Stoddard, J. E. Niemela, T. A. Fleisher, and S. D. Rosenzweig, Targeted NGS: A CostEffective Approach to Molecular Diagnosis of PIDs, Front Immunol, vol.5, p.531, 2014.

H. H. Uhlig, T. Schwerd, and S. Koletzko, The diagnostic approach to monogenic very early onset inflammatory bowel disease, Gastroenterology, vol.147, issue.5, pp.990-1007, 2014.

I. J. Nijman, J. M. Van-montfrans, and M. Hoogstraat, Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies, J Allergy Clin Immunol, vol.133, issue.2, pp.529-563, 2014.

H. Yu, V. W. Zhang, and A. Stray-pedersen, Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing, J Allergy Clin Immunol, 2016.

J. Kammermeier, S. Drury, and C. T. James, Targeted gene panel sequencing in children with very early onset inflammatory bowel disease--evaluation and prospective analysis, J Med Genet, vol.51, issue.11, pp.748-55, 2014.

J. Salomon, O. Goulet, and D. Canioni, Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form, Hum Genet, vol.133, issue.3, pp.299-310, 2014.
URL : https://hal.archives-ouvertes.fr/hal-00880136

F. Charbit-henrion, A. K. Jeverica, and B. Begue, Deficiency in Mucosa Associated Lymphoid Tissue Lymphoma Translocation 1 (MALT1): A Novel Cause of Ipex-Like Syndrome, J Pediatr Gastroenterol Nutr, vol.139, issue.3, pp.770-778, 2010.

C. Aguilar, C. Lenoir, and N. Lambert, Characterization of Crohn disease in X-linked inhibitor of apoptosis-deficient male patients and female symptomatic carriers, J Allergy Clin Immunol, vol.134, issue.5, pp.1131-1172, 2014.

B. Lo, K. Zhang, and W. Lu, AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy, Science, vol.349, issue.6246, pp.436-476, 2015.

E. F. De-zoeten, I. Lee, and L. Wang, Foxp3 processing by proprotein convertases and control of regulatory T cell function, J Biol Chem, vol.284, issue.9, pp.5709-5725, 2009.

R. A. Marsh, K. Rao, and P. Satwani, Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes, Blood, vol.121, issue.6, pp.877-83, 2013.

C. Aguilar, C. Lenoir, and N. Lambert, Characterization of Crohn disease in X-linked inhibitor of apoptosis-deficient male patients and female symptomatic carriers, J Allergy Clin Immunol, vol.134, issue.5, pp.1131-1172, 2014.

J. Roesler, J. T. Curnutte, and J. Rae, Recombination events between the p47-phox gene and its highly homologous pseudogenes are the main cause of autosomal recessive chronic granulomatous disease, Blood, vol.95, issue.6, pp.2150-2156, 2000.

J. Kammermeier, R. Dziubak, and M. Pescarin, Phenotypic and genotypic characterisation of inflammatory bowel disease presenting before the age of 2 years, J Crohns Colitis, vol.125, issue.4, pp.591-600, 2015.

N. Romberg, A. Moussawi, K. , N. , and C. , Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation, Nat Genet, vol.46, issue.10, pp.1135-1144, 2014.

D. Schubert, C. Bode, and R. Kenefeck, Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations, Nat Med, vol.20, issue.12, pp.1410-1416, 2014.

M. Lek, K. J. Karczewski, and E. V. Minikel, Analysis of protein-coding genetic variation in 60,706 humans, Nature, vol.536, issue.7616, pp.285-91, 2016.

R. Coelho, A. Peixoto, and J. Amil-dias, Refractory monogenic Crohn's disease due to X-linked inhibitor of apoptosis deficiency, Int J Colorectal Dis, vol.31, issue.6, pp.1235-1241, 2016.

R. Lemoine, J. Pachlopnik-schmid, and H. F. Farin, Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency, J Allergy Clin Immunol, vol.134, issue.6, pp.1354-64, 2014.

J. Wang, G. Cortina, and S. V. Wu, Mutant neurogenin-3 in congenital malabsorptive diarrhea, N Engl J Med, vol.355, issue.3, pp.270-80, 2006.

M. Tsuda, T. R. Torgerson, and C. Selmi, The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies, J Autoimmun, vol.35, issue.3, pp.265-273, 2010.

R. Harbuz, J. Lespinasse, and S. Boulet, Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome, Prenat Diagn, vol.30, issue.11, pp.1072-1080, 2010.
URL : https://hal.archives-ouvertes.fr/inserm-00588282

M. Sivagnanam, T. Schaible, and R. Szigeti, Further evidence for EpCAM as the gene for congenital tufting enteropathy, Am J Med Genet A, vol.152, issue.1, pp.222-226, 2010.

P. Sander, M. Alfalah, and M. Keiser, X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis, Clin Immunol, vol.27, issue.1, pp.133-174, 2006.

F. Dhalla, H. Fox, and E. E. Davenport, Chronic mucocutaneous candidiasis: characterization of a family with STAT-1 gain-of-function and development of an ex-vivo assay for Th17 deficiency of diagnostic utility, Clin Exp Immunol, vol.184, issue.2, pp.216-243, 2016.

D. Kotlarz, R. Beier, and D. Murugan, Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy, Gastroenterology, 2012.

J. D. Milner, Blood, vol.125, issue.4, pp.591-600, 2015.

E. M. Haapaniemi, Blood, vol.125, issue.4, pp.639-687, 2015.

S. E. Flanagan, Nature genetics, vol.46, issue.8, pp.812-816, 2014.

J. Wienke, Oncotarget, vol.6, issue.24, pp.20037-20079, 2015.

C. Speckmann, K. Lehmberg, and M. H. Albert, X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis, Clin Immunol, vol.149, pp.133-141, 2013.

E. A. Worthey, A. N. Mayer, and G. D. Syverson, Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease, Genet Med, vol.13, pp.255-262, 2011.

C. Aguilar and S. Latour, X-linked inhibitor of apoptosis protein deficiency: more than an X-linked lymphoproliferative syndrome, J Clin Immunol, vol.35, pp.331-338, 2015.

Y. Zeissig, B. S. Petersen, and S. Milutinovic, XIAP variants in male Crohn's disease, Gut, vol.64, pp.66-76, 2014.

, Int J Colorectal Dis

C. L. Bennett, J. Christie, F. Ramsdell, M. E. Brunkow, P. J. Ferguson et al., he immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3, Nat Genet, vol.27, issue.1, pp.20-21, 2001.

E. M. Kofoed, V. Hwa, B. Little, K. A. Woods, C. K. Buckway et al., Growth hormone insensitivity associated with a STAT5b mutation, N Engl J Med, vol.349, issue.12, pp.1139-1186, 2003.

A. A. Caudy, S. T. Reddy, T. Chatila, J. P. Atkinson, and J. W. Verbsky, CD25 deiciency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linkedlike syndrome, and defective IL-10 expression from CD4 lymphocytes, J Allergy Clin Immunol, vol.119, issue.2, pp.482-489, 2007.

D. Schubert, C. Bode, R. Kenefeck, T. Z. Hou, J. B. Wing et al., Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations, Nat Med, vol.20, issue.12, pp.1410-1416, 2014.

G. Lopez-herrera, G. Tampella, Q. Pan-hammarström, P. Herholz, C. M. Trujillo-vargas et al., Deleterious mutations in LRBA are associated with a syndrome of immune deiciency and autoimmunity, Am J Hum Genet, vol.90, issue.6, pp.986-1001, 2012.

L. Gámez-díaz, D. August, P. Stepensky, S. Revel-vilk, M. G. Seidel et al., he extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deiciency, J Allergy Clin Immunol, vol.137, issue.1, pp.223-253, 2016.

S. Revel-vilk, U. Fischer, B. Keller, S. Nabhani, L. Gámez-díaz et al., Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation, Clin Immunol Orlando Fla, vol.159, issue.1, pp.84-92, 2015.

F. Schreiner, M. Plamper, G. Dueker, S. Schoenberger, L. Gámez-díaz et al., Infancy-onset T1DM, short stature and severe immunodysregulation in two siblings with a homozygous LRBA-mutation, J Clin Endocrinol Metab, vol.101, issue.3, pp.898-904, 2016.

O. K. Alkhairy, H. Abolhassani, N. Rezaei, M. Fang, K. K. Andersen et al., Spectrum of phenotypes associated with mutations in LRBA, J Clin Immunol, vol.36, issue.1, pp.33-45, 2016.

, Frontiers in Pediatrics | www.frontiersin.org September, vol.4, p.98, 2016.

G. S. Eisenbarth and P. A. Gottlieb, Autoimmune polyendocrine syndromes, N Engl J Med, vol.350, issue.20, pp.2068-79, 2004.

A. R. Cullinane, A. A. Schäfer, and M. Huizing, he BEACH is hot: a LYST of emerging roles for BEACH-domain containing proteins in human disease, Traic Cph Den, vol.14, issue.7, pp.749-66, 2013.

J. F. Brunet, F. Denizot, M. F. Luciani, M. Roux-dosseto, M. Suzan et al., A new member of the immunoglobulin superfamily -CTLA-4, Nature, vol.328, issue.6127, 1987.

B. Soskic, O. S. Qureshi, T. Hou, and D. M. Sansom, A transendocytosis perspective on the CD28/CTLA-4 pathway, Adv Immunol, vol.124, pp.95-136, 2014.

T. Takahashi, T. Tagami, S. Yamazaki, T. Uede, J. Shimizu et al., Immunologic self-tolerance maintained by CD25(+)CD4(+) regulatory T cells constitutively expressing cytotoxic T lymphocyte-associated antigen 4, J Exp Med, vol.192, issue.2, pp.303-313, 2000.

O. S. Qureshi, S. Kaur, T. Z. Hou, L. E. Jefery, N. S. Poulter et al., Constitutive clathrin-mediated endocytosis of CTLA-4 persists during T cell activation, J Biol Chem, vol.287, issue.12, pp.9429-9469, 2012.

B. Lo, K. Zhang, W. Lu, L. Zheng, Q. Zhang et al., AUTOIMMUNE DISEASE. Patients with LRBA deiciency show CTLA4 loss and immune dysregulation responsive to abatacept therapy, Science, vol.349, issue.6246, pp.436-476, 2015.

M. A. Slatter, K. R. Engelhardt, L. M. Burroughs, P. D. Arkwright, Z. Nademi et al., Hematopoietic stem cell transplantation for CTLA4 deiciency, J Allergy Clin Immunol, vol.138, issue.2, pp.615-624, 2016.

E. Lévy, M. Stolzenberg, J. Bruneau, S. Breton, B. Neven et al., LRBA deiciency with autoimmunity and early onset chronic erosive polyarthritis, Clin Immunol Orlando Fla, vol.168, pp.88-93, 2016.

B. Tesi, P. Pritakis, F. Lindgren, S. Chiang, N. Kartalis et al., Successful hematopoietic stem cell transplantation in a patient with LPS-responsive beige-like anchor (LRBA) gene mutation, J Clin Immunol, vol.36, issue.5, pp.480-489, 2016.

, Conlict of Interest Statement: he authors declare that the research was con

©. Copyright, . Bakhtiar, . Ruemmele, . Charbit-henrion, . Lévy et al., his is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). he use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, 2016.

T. E. Adolph, L. Niederreiter, R. S. Blumberg, and A. Kaser, Endoplasmic reticulum stress and inflammation, Dig Dis, vol.30, pp.341-346, 2012.

C. Aguilar and S. Latour, X-linked inhibitor of apoptosis protein deficiency: more than an X-linked lymphoproliferative syndrome, J Clin Immunol, vol.35, pp.331-338, 2015.

C. Aguilar, C. Lenoir, N. Lambert, B. Begue, N. Brousse et al.,

S. Gerart and H. Chapel, Characterization of Crohn disease in X-linked inhibitor of apoptosis-deficient male patients and female symptomatic carriers, J Allergy Clin Immunol, vol.134, pp.1131-1141, 2014.

A. Alangari, A. Alsultan, N. Adly, M. J. Massaad, I. S. Kiani et al., LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency, J Allergy Clin Immunol, vol.130, pp.481-488, 2012.

L. Alsina, E. Israelsson, M. C. Altman, K. K. Dang, P. Ghandil et al., A narrow repertoire of transcriptional modules responsive to pyogenic bacteria is impaired in patients carrying loss-of-function mutations in MYD88 or IRAK4, Nat Immunol, vol.15, pp.1134-1142, 2014.

N. Arpaia, C. Campbell, X. Fan, S. Dikiy, J. Van-der-veeken et al., Metabolites produced by commensal bacteria promote peripheral regulatory T-cell generation, Nature, vol.504, pp.451-455, 2013.

M. Asano, M. Toda, N. Sakaguchi, and S. Sakaguchi, Autoimmune disease as a consequence of developmental abnormality of a T cell subpopulation, J Exp Med, vol.184, pp.387-396, 1996.

M. J. Asquith, O. Boulard, F. Powrie, and K. J. Maloy, Pathogenic and protective roles of MyD88 in leukocytes and epithelial cells in mouse models of inflammatory bowel disease, Gastroenterology, vol.139, pp.511-512, 2010.

K. Atarashi, T. Tanoue, K. Oshima, W. Suda, Y. Nagano et al., Treg induction by a rationally selected mixture of Clostridia strains from the human microbiota, Nature, vol.500, pp.232-236, 2013.

Y. Avitzur, C. Guo, L. A. Mastropaolo, E. Bahrami, H. Chen et al.,

R. Murchie and R. Fattouh, Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease, Gastroenterology, vol.146, pp.1028-1039, 2014.

B. Bader-meunier, B. Florkin, J. Sibilia, C. Acquaviva, E. Hachulla et al.,

C. M. Farber, M. Fischbach, and V. Hentgen, Mevalonate kinase deficiency: a survey of 50 patients, Pediatrics, vol.128, pp.152-159, 2011.

B. Begue, J. Verdier, F. Rieux-laucat, O. Goulet, A. Morali et al., Defective IL10 signaling defining a subgroup of patients with inflammatory bowel disease, Am J Gastroenterol, vol.106, pp.1544-1555, 2011.

C. L. Bennett, J. Christie, F. Ramsdell, M. E. Brunkow, P. J. Ferguson et al., The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3, 2001.

, Nat Genet, vol.27, pp.20-21

D. J. Berg, N. Davidson, R. Kuhn, W. Muller, S. Menon et al., Enterocolitis and colon cancer in interleukin-10-deficient mice are associated with aberrant cytokine production and CD4(+) TH1-like responses, J Clin Invest, vol.98, pp.1010-1020, 1996.

L. Bezrodnik, M. S. Caldirola, A. G. Seminario, I. Moreira, and M. I. Gaillard, Follicular bronchiolitis as phenotype associated with CD25 deficiency, Clin Exp Immunol, vol.175, pp.227-234, 2014.

A. E. Bigorgne, H. F. Farin, R. Lemoine, N. Mahlaoui, N. Lambert et al., TTC7A mutations disrupt intestinal epithelial apicobasal polarity, J Clin Invest, vol.124, pp.328-337, 2014.

M. E. Brunkow, E. W. Jeffery, K. A. Hjerrild, B. Paeper, L. B. Clark et al., Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse, Nat Genet, vol.27, pp.68-73, 2001.

M. A. Burchill, J. Yang, K. B. Vang, J. J. Moon, H. H. Chu et al.,

M. K. Jenkins and M. A. Farrar, Linked T cell receptor and cytokine signaling govern the development of the regulatory T cell repertoire, Immunity, vol.28, pp.112-121, 2008.

S. O. Burns, H. L. Zenner, V. Plagnol, J. Curtis, K. Mok et al.,

R. Doffinger, A. J. Thrasher, and S. Nejentsev, LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia, J Allergy Clin Immunol, vol.130, pp.1428-1432, 2012.

V. Busoni, J. Lemale, B. Dubern, F. Frangi, P. Bourgeois et al., IBD-like features in Syndromic Diarrhea/Tricho-Hepato-Enteric Syndrome, J Pediatr Gastroenterol Nutr, 2016.

K. Cadwell, J. Y. Liu, S. L. Brown, H. Miyoshi, J. Loh et al., A key role for autophagy and the autophagy gene Atg16l1 in mouse and human intestinal Paneth cells, Nature, vol.456, pp.259-263, 2008.

K. Cadwell, K. K. Patel, N. S. Maloney, T. C. Liu, A. C. Ng et al., Virus-plus-susceptibility gene interaction determines Crohn's disease gene Atg16L1 phenotypes in intestine, Cell, vol.141, pp.1135-1145, 2010.

R. B. Canani, G. Castaldo, R. Bacchetta, M. G. Martin, and O. Goulet, Congenital diarrhoeal disorders: advances in this evolving web of inherited enteropathies, Nat Rev Gastroenterol Hepatol, vol.12, pp.293-302, 2015.

S. W. Canna, A. A. De-jesus, S. Gouni, S. R. Brooks, B. Marrero et al., An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome, Nat Genet, vol.46, pp.1140-1146, 2014.

R. Caruso, N. Warner, N. Inohara, and G. Nunez, NOD1 and NOD2: signaling, host defense, and inflammatory disease, Immunity, vol.41, pp.898-908, 2014.

A. A. Caudy, S. T. Reddy, T. Chatila, J. P. Atkinson, and J. W. Verbsky, CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes, J Allergy Clin Immunol, vol.119, pp.482-487, 2007.

N. Cerf-bensussan and V. Gaboriau-routhiau, The immune system and the gut microbiota: friends or foes?, Nat Rev Immunol, vol.10, pp.735-744, 2010.
URL : https://hal.archives-ouvertes.fr/hal-01204303

L. M. Charbonnier, E. Janssen, J. Chou, T. K. Ohsumi, S. Keles et al., Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA, J Allergy Clin Immunol, vol.135, pp.217-227, 2015.

T. A. Chatila, F. Blaeser, N. Ho, H. M. Lederman, C. Voulgaropoulos et al., JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunityallergic disregulation syndrome, J Clin Invest, vol.106, pp.75-81, 2000.

S. Chauhan, M. A. Mandell, and V. Deretic, IRGM governs the core autophagy machinery to conduct antimicrobial defense, Mol Cell, vol.58, pp.507-521, 2015.

R. Chen, S. Giliani, G. Lanzi, G. I. Mias, S. Lonardi et al., Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias, J Allergy Clin Immunol, vol.132, pp.656-664, 2013.

R. Chen, L. Shi, J. Hakenberg, B. Naughton, P. Sklar et al.,

M. Lemire, Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases, Nat Biotechnol, vol.34, pp.531-538, 2016.

H. Chu, A. Khosravi, I. P. Kusumawardhani, A. H. Kwon, A. C. Vasconcelos et al.,

A. E. Mayer, Y. Shen, W. L. Wu, and A. Kambal, Gene-microbiota interactions contribute to the pathogenesis of inflammatory bowel disease, Science, vol.352, pp.1116-1120, 2016.

N. Coant, S. Ben-mkaddem, E. Pedruzzi, C. Guichard, X. Treton et al., NADPH oxidase 1 modulates WNT and NOTCH1 signaling to control the fate of proliferative progenitor cells in the colon, Mol Cell Biol, vol.30, pp.2636-2650, 2010.

T. Cole, M. S. Pearce, A. J. Cant, C. M. Cale, D. Goldblatt et al., Clinical outcome in children with chronic granulomatous disease managed conservatively or with hematopoietic stem cell transplantation, J Allergy Clin Immunol, vol.132, pp.1150-1155, 2013.

E. Cretney, A. Xin, W. Shi, M. Minnich, F. Masson et al.,

M. Busslinger and S. L. Nutt, The transcription factors Blimp-1 and IRF4 jointly control the differentiation and function of effector regulatory T cells, Nat Immunol, vol.12, pp.304-311, 2011.

Y. J. Crow and N. Manel, Aicardi-Goutieres syndrome and the type I interferonopathies, Nat Rev Immunol, vol.15, pp.429-440, 2015.

R. B. Damgaard, B. K. Fiil, C. Speckmann, M. Yabal, U. Zur-stadt et al., Disease-causing mutations in the XIAP BIR2 domain impair NOD2-dependent immune signalling, EMBO Mol Med, vol.5, pp.1278-1295, 2013.

N. J. Davidson, M. W. Leach, M. M. Fort, L. Thompson-snipes, R. Kuhn et al., T helper cell 1-type CD4+ T cells, but not B cells, mediate colitis in interleukin 10-deficient mice, J Exp Med, vol.184, pp.241-251, 1996.

A. De-luca, S. P. Smeekens, A. Casagrande, R. Iannitti, K. L. Conway et al., IL-1 receptor blockade restores autophagy and reduces inflammation in chronic granulomatous disease in mice and in humans, Proc Natl Acad Sci U S A, vol.111, pp.3526-3531, 2014.

S. S. De-ravin, N. Naumann, E. W. Cowen, J. Friend, D. Hilligoss et al.,

K. S. Barron, M. L. Turner, and J. I. Gallin, Chronic granulomatous disease as a risk factor for autoimmune disease, J Allergy Clin Immunol, vol.122, pp.1097-1103, 2008.

S. Devkota, Y. Wang, M. W. Musch, V. Leone, H. Fehlner-peach et al.,

D. A. Antonopoulos, B. Jabri, C. , and E. B. , Dietary-fat-induced taurocholic acid promotes pathobiont expansion and colitis in Il10-/-mice, Nature, vol.487, pp.104-108, 2012.

L. A. Dieleman, A. Arends, S. L. Tonkonogy, M. S. Goerres, D. W. Craft et al., Helicobacter hepaticus does not induce or potentiate colitis in interleukin-10-deficient mice, Infect Immun, vol.68, pp.5107-5113, 2000.

R. Doffinger, A. Smahi, C. Bessia, F. Geissmann, J. Feinberg et al.,

S. Kenwrick, S. Dupuis-girod, and S. Blanche, X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling, Nat Genet, vol.27, pp.277-285, 2001.

M. Dziadzio, S. Ammann, C. Canning, F. Boyle, A. Hassan et al., Symptomatic males and female carriers in a large Caucasian kindred with XIAP deficiency, J Clin Immunol, vol.35, pp.439-444, 2015.

S. C. Eckard, G. I. Rice, A. Fabre, C. Badens, E. E. Gray et al., The SKIV2L RNA exosome limits activation of the RIG-I-like receptors, Nat Immunol, vol.15, pp.839-845, 2014.

W. E. Ek, M. Amato, and J. Halfvarson, The history of genetics in inflammatory bowel disease, Ann Gastroenterol, vol.27, pp.294-303, 2014.

K. R. Engelhardt, N. Shah, I. Faizura-yeop, D. F. Kocacik-uygun, N. Frede et al.,

E. Shteyer, S. Filiz, R. Chee, and M. Elawad, Clinical outcome in IL-10-and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation, J Allergy Clin Immunol, vol.131, pp.825-830, 2013.

A. Fabre, A. Breton, M. E. Coste, V. Colomb, B. Dubern et al., Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndrome, Arch Dis Child, vol.99, pp.35-38, 2014.
URL : https://hal.archives-ouvertes.fr/hal-01859445

A. Fabre, B. Charroux, C. Martinez-vinson, B. Roquelaure, E. Odul et al.,

V. Colomb, N. Andre, and J. P. Hugot, SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome, Am J Hum Genet, vol.90, pp.689-692, 2012.
URL : https://hal.archives-ouvertes.fr/hal-00843403

A. Fabre, C. Martinez-vinson, B. Roquelaure, C. Missirian, N. Andre et al.,

E. Odul, V. Colomb, and J. Lemale, Novel mutations in TTC37 associated with trichohepato-enteric syndrome, Hum Mutat, vol.32, pp.277-281, 2011.

J. D. Fish, R. E. Duerst, E. W. Gelfand, J. S. Orange, and N. Bunin, Challenges in the use of allogeneic hematopoietic SCT for ectodermal dysplasia with immune deficiency, Bone Marrow Transplant, vol.43, pp.217-221, 2009.

S. E. Flanagan, E. Haapaniemi, M. A. Russell, R. Caswell, H. Lango-allen et al.,

T. J. Mcdonald, H. Rajala, A. Ramelius, and J. Barton, Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease, Nat Genet, vol.46, pp.812-814, 2014.

Y. Furusawa, Y. Obata, S. Fukuda, T. A. Endo, G. Nakato et al., Commensal microbe-derived butyrate induces the differentiation of colonic regulatory T cells, Nature, vol.504, pp.446-450, 2013.

E. Gambineri, L. Perroni, L. Passerini, L. Bianchi, C. Doglioni et al., Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity, J Allergy Clin Immunol, vol.122, pp.1105-1112, 2008.

M. A. Gavin, J. P. Rasmussen, J. D. Fontenot, V. Vasta, V. C. Manganiello et al., Foxp3-dependent programme of regulatory T-cell differentiation, Nature, vol.445, pp.771-775, 2007.

F. Gerbe, J. , and P. , Intestinal tuft cells: epithelial sentinels linking luminal cues to the immune system, Mucosal Immunol, 2016.
URL : https://hal.archives-ouvertes.fr/hal-01940967

S. R. Gill, M. Pop, R. T. Deboy, P. B. Eckburg, P. J. Turnbaugh et al.,

D. A. Relman, C. M. Fraser-liggett, and K. E. Nelson, Metagenomic analysis of the human distal gut microbiome, Science, vol.312, pp.1355-1359, 2006.

M. Girard, F. Lacaille, V. Verkarre, R. Mategot, G. Feldmann et al., MYO5B and bile salt export pump contribute to cholestatic liver disorder in microvillous inclusion disease, Hepatology, vol.60, pp.301-310, 2014.

E. O. Glocker, N. Frede, M. Perro, N. Sebire, M. Elawad et al., Infant colitis--it's in the genes, Lancet, vol.376, p.1272, 2010.

E. O. Glocker, D. Kotlarz, K. Boztug, E. M. Gertz, A. A. Schaffer et al.,

J. Diestelhorst, A. Allroth, and D. Murugan, Inflammatory bowel disease and mutations affecting the interleukin-10 receptor, N Engl J Med, vol.361, pp.2033-2045, 2009.

K. Goudy, D. Aydin, F. Barzaghi, E. Gambineri, M. Vignoli et al., Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity, Clin Immunol, vol.146, pp.248-261, 2013.

O. Goulet, J. Salomon, F. Ruemmele, N. P. De-serres, and N. Brousse, Intestinal epithelial dysplasia (tufting enteropathy), Orphanet J Rare Dis, vol.2, p.20, 2007.

W. A. Grimm, J. S. Messer, S. F. Murphy, T. Nero, J. P. Lodolce et al.,

S. Bartulis, B. E. Sylvester, and A. Springer, The Thr300Ala variant in ATG16L1 is associated with improved survival in human colorectal cancer and enhanced production of type I interferon, Gut, vol.65, pp.456-464, 2016.

E. Guerra, R. Lattanzio, R. La-sorda, F. Dini, G. M. Tiboni et al., , 2012.

, mTrop1/Epcam knockout mice develop congenital tufting enteropathy through dysregulation of intestinal E-cadherin/beta-catenin, PLoS One, vol.7, p.49302

E. M. Ha, C. T. Oh, Y. S. Bae, and W. J. Lee, A direct role for dual oxidase in Drosophila gut immunity, Science, vol.310, pp.847-850, 2005.

E. M. Haapaniemi, M. Kaustio, H. L. Rajala, A. J. Van-adrichem, L. Kainulainen et al., Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3, Blood, vol.125, pp.639-648, 2015.

H. Harlin, S. B. Reffey, C. S. Duckett, T. Lindsten, and C. B. Thompson, Characterization of XIAP-deficient mice, Mol Cell Biol, vol.21, pp.3604-3608, 2001.

J. L. Hartley, N. C. Zachos, B. Dawood, M. Donowitz, J. Forman et al., Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy), Gastroenterology, vol.138, pp.2381-2382, 2010.

P. Hayes, S. Dhillon, K. O'neill, C. Thoeni, K. Y. Hui et al., Defects in NADPH Oxidase Genes NOX1 and DUOX2 in Very Early Onset Inflammatory Bowel Disease, vol.1, pp.489-502, 2015.

P. Heinz-erian, T. Muller, B. Krabichler, M. Schranz, C. Becker et al.,

B. Rossier, M. Vujic, and I. W. Booth, Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea, Am J Hum Genet, vol.84, pp.188-196, 2009.

C. Helms, S. Pelsue, L. Cao, E. Lamb, B. Loffredo et al., The Tetratricopeptide repeat domain 7 gene is mutated in flaky skin mice: a model for psoriasis, autoimmunity, and anemia, Exp Biol Med (Maywood), vol.230, pp.659-667, 2005.

M. L. Hermiston, G. , and J. I. , Inflammatory bowel disease and adenomas in mice expressing a dominant negative N-cadherin, Science, vol.270, pp.1203-1207, 1995.

S. Hori, T. Nomura, and S. Sakaguchi, Control of regulatory T cell development by the transcription factor Foxp3, Science, vol.299, pp.1057-1061, 2003.

N. Hoshi, D. Schenten, S. A. Nish, Z. Walther, N. Gagliani et al., MyD88 signalling in colonic mononuclear phagocytes drives colitis in IL-10-deficient mice, Nat Commun, vol.3, 1120.

M. Hultqvist, P. Olofsson, J. Holmberg, B. T. Backstrom, J. Tordsson et al., , 2004.

, Enhanced autoimmunity, arthritis, and encephalomyelitis in mice with a reduced oxidative burst due to a mutation in the Ncf1 gene, Proc Natl Acad Sci U S A, vol.101, pp.12646-12651

S. H. Jackson, J. I. Gallin, and S. M. Holland, The p47phox mouse knock-out model of chronic granulomatous disease, J Exp Med, vol.182, pp.751-758, 1995.

P. Jaggi, R. Scherzer, R. Knieper, H. Mousa, P. et al., Utility of screening for chronic granulomatous disease in patients with inflammatory bowel disease, J Clin Immunol, vol.32, pp.78-81, 2012.

S. Janssens, B. Pulendran, and B. N. Lambrecht, Emerging functions of the unfolded protein response in immunity, Nat Immunol, vol.15, pp.910-919, 2014.

N. Jeremiah, B. Neven, M. Gentili, I. Callebaut, S. Maschalidi et al., Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations, J Clin Invest, vol.124, pp.5516-5520, 2014.

C. Jobin, MyD88 signaling in the intestine: Dr Jekyll and Mr Hyde?, Gastroenterology, vol.139, pp.383-385, 2010.

M. E. Johansson and G. C. Hansson, Immunological aspects of intestinal mucus and mucins, Nat Rev Immunol, 2016.

S. Z. Josefowicz, L. F. Lu, and A. Y. Rudensky, Regulatory T cells: mechanisms of differentiation and function, Annu Rev Immunol, vol.30, pp.531-564, 2012.

S. Z. Josefowicz, R. E. Niec, H. Y. Kim, P. Treuting, T. Chinen et al., Extrathymically generated regulatory T cells control mucosal TH2 inflammation, Nature, vol.482, pp.395-399, 2012.

J. Kammermeier, S. Drury, C. T. James, R. Dziubak, L. Ocaka et al., Targeted gene panel sequencing in children with very early onset inflammatory bowel disease--evaluation and prospective analysis, J Med Genet, vol.51, pp.748-755, 2014.

J. Kammermeier, R. Dziubak, M. Pescarin, S. Drury, H. Godwin et al.,

B. Huggett, S. Sider, and C. James, Phenotypic and genotypic characterisation of inflammatory bowel disease presenting before the age of 2 years, J Crohns Colitis, 2016.

J. Kammermeier, G. Lucchini, S. Y. Pai, A. Worth, D. Rampling et al., Stem cell transplantation for tetratricopeptide repeat domain 7A deficiency: long-term follow up, 2016.

A. Kaser, A. H. Lee, A. Franke, J. N. Glickman, S. Zeissig et al., XBP1 links ER stress to intestinal inflammation and confers genetic risk for human inflammatory bowel disease, Cell, vol.134, pp.743-756, 2008.

T. Kelkka, D. Kienhofer, M. Hoffmann, M. Linja, K. Wing et al., Reactive oxygen species deficiency induces autoimmunity with type 1 interferon signature, Antioxid Redox Signal, vol.21, pp.2231-2245, 2014.

I. Kobayashi, R. Shiari, M. Yamada, N. Kawamura, M. Okano et al., Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX), J Med Genet, vol.38, pp.874-876, 2001.

L. E. Kolodziej, J. P. Lodolce, J. E. Chang, J. R. Schneider, W. A. Grimm et al.,

J. S. Messer, S. F. Murphy, and N. Reddy, TNFAIP3 maintains intestinal barrier function and supports epithelial cell tight junctions, PLoS One, vol.6, p.26352, 2011.

H. L. Koskela, S. Eldfors, P. Ellonen, A. J. Van-adrichem, H. Kuusanmaki et al.,

S. Lagstrom, M. J. Clemente, T. Olson, and S. E. Jalkanen, Somatic STAT3 mutations in large granular lymphocytic leukemia, N Engl J Med, vol.366, pp.1905-1913, 2012.

S. V. Kotenko, C. D. Krause, L. S. Izotova, B. P. Pollack, W. Wu et al., , 1997.

, Identification and functional characterization of a second chain of the interleukin-10 receptor complex, EMBO J, vol.16, pp.5894-5903

D. Kotlarz, R. Beier, D. Murugan, J. Diestelhorst, O. Jensen et al., Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy, Gastroenterology, vol.143, pp.347-355, 2012.

H. S. Kuehn, W. Ouyang, B. Lo, E. K. Deenick, J. E. Niemela et al., Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4, Science, vol.345, pp.1623-1627, 2014.

R. Kuhn, J. Lohler, D. Rennick, K. Rajewsky, and W. Muller, Interleukin-10-deficient mice develop chronic enterocolitis, Cell, vol.75, pp.263-274, 1993.

M. C. Kullberg, J. M. Ward, P. L. Gorelick, P. Caspar, S. Hieny et al.,

A. Sher, Helicobacter hepaticus triggers colitis in specific-pathogen-free interleukin-10 (IL-10)-deficient mice through an IL-12-and gamma interferon-dependent mechanism, Infect Immun, vol.66, pp.5157-5166, 1998.

V. Lampasona, L. Passerini, F. Barzaghi, C. Lombardoni, E. Bazzigaluppi et al.,

R. Bacchetta and E. Bosi, Autoantibodies to harmonin and villin are diagnostic markers in children with IPEX syndrome, PLoS One, vol.8, p.78664, 2013.

K. G. Lassen, P. Kuballa, K. L. Conway, K. K. Patel, C. E. Becker et al., Atg16L1 T300A variant decreases selective autophagy resulting in altered cytokine signaling and decreased antibacterial defense, Proc Natl Acad Sci U S A, vol.111, pp.7741-7746, 2014.

A. Laurence, C. M. Tato, T. S. Davidson, Y. Kanno, Z. Chen et al.,

R. Siegel and L. Hennighausen, Interleukin-2 signaling via STAT5 constrains T helper 17 cell generation, Immunity, vol.26, pp.371-381, 2007.

E. G. Lee, D. L. Boone, S. Chai, S. L. Libby, M. Chien et al., Failure to regulate TNF-induced NF-kappaB and cell death responses in A20-deficient mice, Science, vol.289, pp.2350-2354, 2000.

S. J. Lee, E. Silverman, and J. M. Bargman, The role of antimalarial agents in the treatment of SLE and lupus nephritis, Nat Rev Nephrol, vol.7, pp.718-729, 2011.

Z. Lei, T. Maeda, A. Tamura, T. Nakamura, Y. Yamazaki et al., EpCAM contributes to formation of functional tight junction in the intestinal epithelium by recruiting claudin proteins, Dev Biol, vol.371, pp.136-145, 2012.

R. Lemoine, J. Pachlopnik-schmid, H. F. Farin, A. Bigorgne, M. Debre et al., Immune deficiency-related enteropathylymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency, J Allergy Clin Immunol, vol.134, pp.1354-1364, 2014.

G. Leoni, A. Alam, P. A. Neumann, J. D. Lambeth, G. Cheng et al., Annexin A1, formyl peptide receptor, and NOX1 orchestrate epithelial repair, J Clin Invest, vol.123, pp.443-454, 2013.

B. Levine and G. Kroemer, Autophagy in the pathogenesis of disease, Cell, vol.132, pp.27-42, 2008.

B. Li, R. Alli, P. Vogel, and T. L. Geiger, IL-10 modulates DSS-induced colitis through a macrophage-ROS-NO axis, Mucosal Immunol, vol.7, pp.869-878, 2014.

C. W. Lio and C. S. Hsieh, A two-step process for thymic regulatory T cell development, Immunity, vol.28, pp.100-111, 2008.

A. Liston and D. H. Gray, Homeostatic control of regulatory T cell diversity, Nat Rev Immunol, vol.14, pp.154-165, 2014.

J. Z. Liu, S. Van-sommeren, H. Huang, S. C. Ng, R. Alberts et al., Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations, Nat Genet, vol.47, pp.979-986, 2015.

B. Lo, K. Zhang, W. Lu, L. Zheng, Q. Zhang et al., AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy, Science, vol.349, pp.436-440, 2015.

G. Lopez-herrera, G. Tampella, Q. Pan-hammarstrom, P. Herholz, C. M. Trujillo-vargas et al., Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity, Am J Hum Genet, vol.90, pp.986-1001, 2012.

A. Ma and B. A. Malynn, A20: linking a complex regulator of ubiquitylation to immunity and human disease, Nat Rev Immunol, vol.12, pp.774-785, 2012.

T. R. Malek, The biology of interleukin-2, Annu Rev Immunol, vol.26, pp.453-479, 2008.

H. Mao, W. Yang, P. P. Lee, M. H. Ho, J. Yang et al., Exome sequencing identifies novel compound heterozygous mutations of IL-10 receptor 1 in neonatal-onset Crohn's disease, Genes Immun, vol.13, pp.437-442, 2012.

A. M. Marchiando, D. Ramanan, Y. Ding, L. E. Gomez, V. M. Hubbard-lucey et al.,

C. Wang, J. W. Ziel, N. Van-rooijen, and G. Nunez, A deficiency in the autophagy gene Atg16L1 enhances resistance to enteric bacterial infection, Cell Host Microbe, vol.14, pp.216-224, 2013.

B. E. Marciano, S. D. Rosenzweig, D. E. Kleiner, V. L. Anderson, D. N. Darnell et al., Gastrointestinal involvement in chronic granulomatous disease, Pediatrics, vol.114, pp.462-468, 2004.

N. Martinez-pomar, I. Munoz-saa, D. Heine-suner, A. Martin, A. Smahi et al., A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency, Hum Genet, vol.118, pp.458-465, 2005.

D. P. Mcgovern, S. Kugathasan, and J. H. Cho, Genetics of Inflammatory Bowel Diseases, vol.149, pp.1163-1176, 2015.

M. A. Mcguckin, S. K. Linden, P. Sutton, and T. H. Florin, Mucin dynamics and enteric pathogens, Nat Rev Microbiol, vol.9, pp.265-278, 2011.

A. F. Milia, L. Ibba-manneschi, M. Manetti, G. Benelli, L. Messerini et al.,

, HLA-B27 transgenic rat: an animal model mimicking gut and joint involvement in human spondyloarthritides, Ann N Y Acad Sci, vol.1173, pp.570-574

J. D. Milner, T. P. Vogel, L. Forbes, C. A. Ma, A. Stray-pedersen et al., Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations, Blood, vol.125, pp.591-599, 2015.

Y. Minegishi, M. Saito, S. Tsuchiya, I. Tsuge, H. Takada et al.,

S. Pasic and O. Stojkovic, Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome, Nature, vol.448, pp.1058-1062, 2007.

N. Moes, F. Rieux-laucat, B. Begue, J. Verdier, B. Neven et al., Reduced expression of FOXP3 and regulatory T-cell function in severe forms of early-onset autoimmune enteropathy, Gastroenterology, vol.139, pp.770-778, 2010.
URL : https://hal.archives-ouvertes.fr/hal-00519699

J. L. Mueller, M. D. Mcgeough, C. A. Pena, and M. Sivagnanam, Functional consequences of EpCam mutation in mice and men, Am J Physiol Gastrointest Liver Physiol, vol.306, pp.278-288, 2014.

A. M. Muise, S. B. Snapper, and S. Kugathasan, The age of gene discovery in very early onset inflammatory bowel disease, Gastroenterology, vol.143, pp.285-288, 2012.

C. M. Mulders-manders and A. Simon, Hyper-IgD syndrome/mevalonate kinase deficiency: what is new?, Semin Immunopathol, vol.37, pp.371-376, 2015.

T. Muller, M. W. Hess, N. Schiefermeier, K. Pfaller, H. L. Ebner et al., MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity, Nat Genet, vol.40, pp.1163-1165, 2008.

K. Nagao, J. Zhu, M. B. Heneghan, J. C. Hanson, M. I. Morasso et al., Abnormal placental development and early embryonic lethality in EpCAMnull mice, PLoS One, vol.4, p.8543, 2009.

Y. Nakano, C. M. Longo-guess, D. E. Bergstrom, W. M. Nauseef, S. M. Jones et al., Mutation of the Cyba gene encoding p22phox causes vestibular and immune defects in mice, J Clin Invest, vol.118, pp.1176-1185, 2008.

A. Nenci, C. Becker, A. Wullaert, R. Gareus, G. Van-loo et al., Epithelial NEMO links innate immunity to chronic intestinal inflammation, Nature, vol.446, pp.557-561, 2007.

B. Neven, E. Mamessier, J. Bruneau, S. Kaltenbach, D. Kotlarz et al., A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency, Blood, vol.122, pp.3713-3722, 2013.
URL : https://hal.archives-ouvertes.fr/hal-01765647

L. A. O'neill and A. G. Bowie, The family of five: TIR-domain-containing adaptors in Tolllike receptor signalling, Nat Rev Immunol, vol.7, pp.353-364, 2007.

S. O'neill, J. Brault, M. J. Stasia, and U. G. Knaus, Genetic disorders coupled to ROS deficiency, Redox Biol, vol.6, pp.135-156, 2015.

S. H. Oh, J. Baek, H. Liany, J. N. Foo, K. M. Kim et al., A Synonymous Variant in IL10RA Affects RNA Splicing in Paediatric Patients with Refractory Inflammatory Bowel Disease, J Crohns Colitis, 2016.

C. Ohnmacht, J. H. Park, S. Cording, J. B. Wing, K. Atarashi et al., MUCOSAL IMMUNOLOGY. The microbiota regulates type 2 immunity through RORgammat(+) T cells, Science, vol.349, pp.989-993, 2015.

S. Y. Pai, O. Levy, H. H. Jabara, J. N. Glickman, L. Stoler-barak et al., Allogeneic transplantation successfully corrects immune defects, but not susceptibility to colitis, in a patient with nuclear factor-kappaB essential modulator deficiency, J Allergy Clin Immunol, vol.122, pp.1113-1118, 2008.

M. A. Park, J. T. Li, J. B. Hagan, D. E. Maddox, A. et al., Common variable immunodeficiency: a new look at an old disease, Lancet, vol.372, pp.489-502, 2008.

N. Patey-mariaud-de-serre, D. Canioni, S. Ganousse, F. Rieux-laucat, O. Goulet et al., Digestive histopathological presentation of IPEX syndrome, Mod Pathol, vol.22, pp.95-102, 2009.

L. W. Peterson and D. Artis, Intestinal epithelial cells: regulators of barrier function and immune homeostasis, Nat Rev Immunol, vol.14, pp.141-153, 2014.

C. Picard, J. L. Casanova, and A. Puel, Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IkappaBalpha deficiency, Clin Microbiol Rev, vol.24, pp.490-497, 2011.

B. Pigneur, J. Escher, M. Elawad, R. Lima, S. Buderus et al.,

K. Lambot and C. Talbotec, Phenotypic characterization of very early-onset IBD due to mutations in the IL10, IL10 receptor alpha or beta gene: a survey of the Genius Working Group, Inflamm Bowel Dis, vol.19, pp.2820-2828, 2013.

M. C. Pils, F. Pisano, N. Fasnacht, J. M. Heinrich, L. Groebe et al., Monocytes/macrophages and/or neutrophils are the target of IL-10 in the LPS endotoxemia model, Eur J Immunol, vol.40, pp.443-448, 2010.

J. D. Pollock, D. A. Williams, M. A. Gifford, L. L. Li, X. Du et al., Mouse model of X-linked chronic granulomatous disease, an inherited defect in phagocyte superoxide production, Nat Genet, vol.9, pp.202-209, 1995.

B. R. Powell, N. R. Buist, and P. Stenzel, An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy, J Pediatr, vol.100, pp.731-737, 1982.

F. Powrie, M. W. Leach, S. Mauze, S. Menon, L. B. Caddle et al., , 1994.

A. Puel, J. Reichenbach, J. Bustamante, C. L. Ku, J. Feinberg et al., The NEMO mutation creating the mostupstream premature stop codon is hypomorphic because of a reinitiation of translation, Am J Hum Genet, vol.78, pp.691-701, 2006.
URL : https://hal.archives-ouvertes.fr/inserm-00142391

S. Rakoff-nahoum, L. Hao, and R. Medzhitov, Role of toll-like receptors in spontaneous commensal-dependent colitis, Immunity, vol.25, pp.319-329, 2006.

D. M. Rennick and M. M. Fort, Lessons from genetically engineered animal models. XII. IL-10-deficient (IL-10(-/-) mice and intestinal inflammation, Am J Physiol Gastrointest Liver Physiol, vol.278, pp.829-833, 2000.

J. Roesler, J. T. Curnutte, J. Rae, D. Barrett, P. Patino et al., , 2000.

, Recombination events between the p47-phox gene and its highly homologous pseudogenes are the main cause of autosomal recessive chronic granulomatous disease, Blood, vol.95, pp.2150-2156

C. M. Roifman, Human IL-2 receptor alpha chain deficiency, Pediatr Res, vol.48, pp.6-11, 2000.

N. Romberg, K. Al-moussawi, C. Nelson-williams, A. L. Stiegler, E. Loring et al., Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation, Nat Genet, vol.46, pp.1135-1139, 2014.

Y. P. Rubtsov, J. P. Rasmussen, E. Y. Chi, J. Fontenot, L. Castelli et al., Regulatory T cell-derived interleukin-10 limits inflammation at environmental interfaces, Immunity, vol.28, pp.546-558, 2008.

D. Rudolph, W. C. Yeh, A. Wakeham, B. Rudolph, D. Nallainathan et al., Severe liver degeneration and lack of NF-kappaB activation in NEMO/IKKgamma-deficient mice, Genes Dev, vol.14, pp.854-862, 2000.

F. M. Ruemmele, M. G. Khoury, C. Talbotec, C. Maurage, J. F. Mougenot et al., Characteristics of inflammatory bowel disease with onset during the first year of life, J Pediatr Gastroenterol Nutr, vol.43, pp.603-609, 2006.

R. Sakamori, S. Das, S. Yu, S. Feng, E. Stypulkowski et al., Cdc42 and Rab8a are critical for intestinal stem cell division, survival, and differentiation in mice, J Clin Invest, vol.122, pp.1052-1065, 2012.
URL : https://hal.archives-ouvertes.fr/hal-01602105

J. Salomon, Y. Espinosa-parrilla, O. Goulet, W. Al-qabandi, P. Guigue et al., A founder effect at the EPCAM locus in Congenital Tufting Enteropathy in the Arabic Gulf, Eur J Med Genet, vol.54, pp.319-322, 2011.

M. E. Samuels, J. Majewski, N. Alirezaie, I. Fernandez, F. Casals et al., Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia, J Med Genet, vol.50, pp.324-329, 2013.

O. Sareila, C. Hagert, P. Rantakari, M. Poutanen, and R. Holmdahl, Direct Comparison of a Natural Loss-Of-Function Single Nucleotide Polymorphism with a Targeted Deletion in the Ncf1 Gene Reveals Different Phenotypes, PLoS One, vol.10, 2015.

T. Sato, S. Mushiake, Y. Kato, K. Sato, M. Sato et al.,

A. Tsuji, The Rab8 GTPase regulates apical protein localization in intestinal cells, Nature, vol.448, pp.366-369, 2007.

M. Schmidt-supprian, W. Bloch, G. Courtois, K. Addicks, A. Israel et al., NEMO/IKK gamma-deficient mice model incontinentia pigmenti, Mol Cell, vol.5, pp.981-992, 2000.

K. Schneeberger, G. F. Vogel, H. Teunissen, D. D. Van-ommen, H. Begthel et al., An inducible mouse model for microvillus inclusion disease reveals a role for myosin Vb in apical and basolateral trafficking, Proc Natl Acad Sci U S A, vol.112, pp.12408-12413, 2015.

D. Schubert, C. Bode, R. Kenefeck, T. Z. Hou, J. B. Wing et al., Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations, Nat Med, vol.20, pp.1410-1416, 2014.

T. Schwerd, S. Pandey, H. T. Yang, K. Bagola, E. Jameson et al.,

S. Y. Patel and C. Booth, Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease, 2016.

E. Sefik, N. Geva-zatorsky, S. Oh, L. Konnikova, D. Zemmour et al., MUCOSAL IMMUNOLOGY. Individual intestinal symbionts induce a distinct population of RORgamma(+) regulatory T cells, Science, vol.349, pp.993-997, 2015.

M. G. Seidel, T. Hirschmugl, L. Gamez-diaz, W. Schwinger, N. Serwas et al., Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency, J Allergy Clin Immunol, vol.135, pp.1384-1390, 2015.

R. K. Sellon, S. Tonkonogy, M. Schultz, L. A. Dieleman, W. Grenther et al., Resident enteric bacteria are necessary for development of spontaneous colitis and immune system activation in interleukin-10-deficient mice, Infect Immun, vol.66, pp.5224-5231, 1998.

N. K. Serwas, A. Kansu, E. Santos-valente, Z. Kuloglu, A. Demir et al., Atypical manifestation of LRBA deficiency with predominant IBD-like phenotype, Inflamm Bowel Dis, vol.21, pp.40-47, 2015.

D. S. Shouval, J. Ouahed, A. Biswas, J. A. Goettel, B. H. Horwitz et al.,

S. B. Snapper, Interleukin 10 receptor signaling: master regulator of intestinal mucosal homeostasis in mice and humans, Adv Immunol, vol.122, pp.177-210, 2014.

G. Sirokmany, A. Donko, and M. Geiszt, Nox/Duox Family of NADPH Oxidases: Lessons from Knockout Mouse Models, Trends Pharmacol Sci, vol.37, pp.318-327, 2016.

M. Sivagnanam, J. L. Mueller, H. Lee, Z. Chen, S. F. Nelson et al., Identification of EpCAM as the gene for congenital tufting enteropathy, Gastroenterology, vol.135, pp.429-437, 2008.

M. Sivagnanam, T. Schaible, R. Szigeti, R. H. Byrd, M. J. Finegold et al., Further evidence for EpCAM as the gene for congenital tufting enteropathy, Am J Med Genet A, vol.152, pp.222-224, 2010.

A. Smahi, G. Courtois, P. Vabres, S. Yamaoka, S. Heuertz et al., Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium, Nature, vol.405, pp.466-472, 2000.

T. Sobajima, S. Yoshimura, T. Iwano, M. Kunii, M. Watanabe et al., Rab11a is required for apical protein localisation in the intestine, Biol Open, vol.4, pp.86-94, 2014.

S. D. Spencer, F. Di-marco, J. Hooley, S. Pitts-meek, M. Bauer et al., The orphan receptor CRF2-4 is an essential subunit of the interleukin 10 receptor, J Exp Med, vol.187, pp.571-578, 1998.

P. Starokadomskyy, T. Gemelli, J. J. Rios, C. Xing, R. C. Wang et al.,

I. Dozmorov, S. Khan, and N. Miyata, DNA polymerase-alpha regulates the activation of type I interferons through cytosolic RNA:DNA synthesis, Nat Immunol, vol.17, pp.495-504, 2016.

P. Stepensky, J. Bartram, T. F. Barth, K. Lehmberg, P. Walther et al.,

O. Beringer, U. Zur-stadt, and A. Schulz, Persistent defective membrane trafficking in epithelial cells of patients with familial hemophagocytic lymphohistiocytosis type 5 due to STXBP2/MUNC18-2 mutations, Pediatr Blood Cancer, vol.60, pp.1215-1222, 2013.

R. Szabo, J. P. Hobson, K. Christoph, P. Kosa, K. List et al., Regulation of cell surface protease matriptase by HAI2 is essential for placental development, neural tube closure and embryonic survival in mice, Development, vol.136, pp.2653-2663, 2009.

D. J. Thornton, K. Rousseau, and M. A. Mcguckin, Structure and function of the polymeric mucins in airways mucus, Annu Rev Physiol, vol.70, pp.459-486, 2008.

S. E. Turvey, A. Durandy, A. Fischer, S. Y. Fung, R. S. Geha et al.,

B. Keller and M. L. Mckinnon, The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency, J Allergy Clin Immunol, vol.134, pp.276-284, 2014.

H. H. Uhlig, Monogenic diseases associated with intestinal inflammation: implications for the understanding of inflammatory bowel disease, Gut, vol.62, pp.1795-1805, 2013.

H. H. Uhlig, T. Schwerd, S. Koletzko, N. Shah, J. Kammermeier et al., The diagnostic approach to monogenic very early onset inflammatory bowel disease, Gastroenterology, vol.147, pp.990-1007, 2014.

F. H. Vaillancourt, M. Brault, L. Pilote, N. Uyttersprot, E. T. Gaillard et al.,

L. Pantages, M. Mcfarland, and S. Breitfelder, Evaluation of phosphatidylinositol-4-kinase IIIalpha as a hepatitis C virus drug target, J Virol, vol.86, pp.11595-11607, 2012.

M. Van-der-sluis, B. A. De-koning, A. C. De-bruijn, A. Velcich, J. P. Meijerink et al., Muc2-deficient mice spontaneously develop colitis, indicating that MUC2 is critical for colonic protection, Gastroenterology, vol.131, pp.117-129, 2006.

R. C. Van-der-veen, T. A. Dietlin, F. M. Hofman, L. Pen, B. H. Segal et al., , 2000.

, Superoxide prevents nitric oxide-mediated suppression of helper T lymphocytes: decreased

K. J. Van-der-velde, H. S. Dhekne, M. A. Swertz, S. Sirigu, V. Ropars et al., An overview and online registry of microvillus inclusion disease patients and their MYO5B mutations, Hum Mutat, vol.34, pp.1597-1605, 2013.

B. J. Van-klinken, J. W. Van-der-wal, A. W. Einerhand, H. A. Buller, and J. Dekker, , 1999.

, Sulphation and secretion of the predominant secretory human colonic mucin MUC2 in ulcerative colitis, Gut, vol.44, pp.387-393

L. Vande-walle, N. Van-opdenbosch, P. Jacques, A. Fossoul, E. Verheugen et al., Negative regulation of the NLRP3 inflammasome by A20 protects against arthritis, Nature, vol.512, pp.69-73, 2014.

F. Venet, C. S. Chung, G. Monneret, X. Huang, B. Horner et al., , 2008.

, Regulatory T cell populations in sepsis and trauma, J Leukoc Biol, vol.83, pp.523-535

J. W. Verbsky and T. A. Chatila, Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related disorders: an evolving web of heritable autoimmune diseases, 2013.

, Curr Opin Pediatr, vol.25, pp.708-714

J. Wang, Y. Ouyang, Y. Guner, H. R. Ford, and A. V. Grishin, Ubiquitin-editing enzyme A20 promotes tolerance to lipopolysaccharide in enterocytes, J Immunol, vol.183, pp.1384-1392, 2009.

Z. Wang, C. Friedrich, S. C. Hagemann, W. H. Korte, N. Goharani et al.,

T. Sparwasser and M. Lochner, Regulatory T cells promote a protective Th17-associated immune response to intestinal bacterial infection with C. rodentium, Mucosal Immunol, vol.7, pp.1290-1301, 2014.

P. Waterhouse, J. M. Penninger, E. Timms, A. Wakeham, A. Shahinian et al., Lymphoproliferative disorders with early lethality in mice deficient in Ctla-4, Science, vol.270, pp.985-988, 1995.

G. V. Weis, B. C. Knowles, E. Choi, A. E. Goldstein, J. A. Williams et al.,

L. A. Lapierre and J. R. Goldenring, Loss of MYO5B in mice recapitulates Microvillus Inclusion Disease and reveals an apical trafficking pathway distinct to neonatal duodenum, Cell Mol Gastroenterol Hepatol, vol.2, pp.131-157, 2016.

C. L. Wiegerinck, A. R. Janecke, K. Schneeberger, G. F. Vogel, D. Y. Van-haaften-visser et al., Loss of syntaxin 3 causes variant microvillus inclusion disease, Gastroenterology, vol.147, p.10, 2014.

R. S. Wildin, F. Ramsdell, J. Peake, F. Faravelli, J. L. Casanova et al.,

M. Mazzella, O. Goulet, and L. Perroni, X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy, Nat Genet, vol.27, pp.18-20, 2001.

K. Wing, K. Klocke, A. Samuelsson, and R. Holmdahl, Germ-free mice deficient of reactive oxygen species have increased arthritis susceptibility, Eur J Immunol, vol.45, pp.1348-1353, 2015.

K. Wing, Y. Onishi, P. Prieto-martin, T. Yamaguchi, M. Miyara et al.,

S. Sakaguchi, CTLA-4 control over Foxp3+ regulatory T cell function, Science, vol.322, pp.271-275, 2008.

S. Wirtz and M. F. Neurath, Mouse models of inflammatory bowel disease, Adv Drug Deliv Rev, vol.59, pp.1073-1083, 2007.

E. A. Worthey, A. N. Mayer, G. D. Syverson, D. Helbling, B. B. Bonacci et al.,

T. Dasu, M. R. Tschannen, and R. L. Veith, Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease, Genet Med, vol.13, pp.255-262, 2011.

I. Yang, D. Eibach, F. Kops, B. Brenneke, S. Woltemate et al.,

S. Muthupalani and J. G. Fox, Intestinal microbiota composition of interleukin, 2013.

, deficient C57BL/6J mice and susceptibility to Helicobacter hepaticus-induced colitis, PLoS One, vol.8, p.70783

Y. Zeissig, B. S. Petersen, S. Milutinovic, E. Bosse, G. Mayr et al.,

M. Kohl and M. W. Laass, XIAP variants in male Crohn's disease, Gut, vol.64, pp.66-76, 2015.

Y. Zhang, H. C. Su, and M. J. Lenardo, Genomics is rapidly advancing precision medicine for immunological disorders, Nat Immunol, vol.16, pp.1001-1004, 2015.

S. G. Zheng, J. H. Wang, W. Stohl, K. S. Kim, J. D. Gray et al., TGF-beta, 2006.

Y. Zheng, S. Josefowicz, A. Chaudhry, X. P. Peng, K. Forbush et al., Role of conserved non-coding DNA elements in the Foxp3 gene in regulatory T-cell fate, Nature, vol.463, pp.808-812, 2010.

Q. Zhou, H. Wang, D. M. Schwartz, M. Stoffels, Y. H. Park et al., Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease, Nat Genet, vol.48, pp.67-73, 2016.