S. E. Flanagan, E. Haapaniemi, M. A. Russell, R. Caswell, H. L. Allen et al., Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease, Nat Genet, vol.46, pp.812-816, 2014.

S. M. Holland, F. R. Deleo, H. Z. Elloumi, A. P. Hsu, G. Uzel et al., STAT3 mutations in the hyper-IgE syndrome, N Engl J Med, vol.357, pp.1608-1627, 2007.

T. P. Vogel, J. D. Milner, and M. A. Cooper, The ying and yang of STAT3 in human disease, J Clin Immunol, vol.35, pp.615-638, 2015.

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.591-600, 2015.

E. J. Hillmer, H. Zhang, H. S. Li, and S. S. Watowich, STAT3 signaling in immunity, Cytokine Growth Factor Rev, vol.31, pp.1-15, 2016.

E. M. Haapaniemi, M. Kaustio, H. 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.639-687, 2015.

L. R. Forbes, T. P. Vogel, M. A. Cooper, J. Castro-wagner, E. Schussler et al., Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations, J Allergy Clin Immunol, vol.142, pp.1665-1674, 2018.

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

C. A. Bennett, S. Petrovski, K. L. Oliver, and S. F. Berkovic, ExACtly zero or once: a clinically helpful guide to assessing genetic variants in mild epilepsies, Neurol Genet, vol.3, p.163, 2017.

J. Wienke, W. Janssen, R. Scholman, H. Spits, M. Van-gijn et al., A novel human STAT3 mutation presents with autoimmunity involving Th17 hyperactivation, Oncotarget, vol.6, pp.20037-20079, 2015.

P. Maffucci, C. A. Filion, B. Boisson, Y. Itan, L. Shang et al., Genetic diagnosis using whole exome sequencing in common variable immunodeficiency, Front Immunol, vol.7, p.220, 2016.

E. Haddad, STAT3: too much may be worse than not enough!, Blood, vol.125, pp.583-587, 2015.

C. Lau, A. D. Mihalek, J. Wang, L. E. Dodd, K. Perkins et al., Pulmonary manifestations of the autoimmune lymphoproliferative syndrome. A retrospective study of a unique patient cohort, Ann Am Thorac Soc, vol.13, pp.1279-88, 2016.

T. Khoury, V. Molho-pessach, Y. Ramot, A. R. Ayman, O. Elpeleg et al., Tocilizumab promotes regulatory T-cell alleviation in STAT3 gain-offunctioneassociated multi-organ autoimmune syndrome, Clin Ther, vol.39, pp.444-453, 2017.

M. A. Weinreich, T. P. Vogel, V. K. Rao, and J. D. Milner, Up, down, and all around: diagnosis and treatment of novel STAT3 variant, Front Pediatr, vol.5, p.49, 2017.

H. Sediva, P. Dusatkova, V. Kanderova, B. Obermannova, J. Kayserova et al., Short stature in a boy with multiple early-onset autoimmune conditions due to a STAT3 activating mutation: could intracellular growth hormone signalling be compromised?, Horm Res Paediatr, vol.88, pp.160-166, 2017.

S. Nabhani, C. Schipp, H. Miskin, C. Levin, S. Postovsky et al., STAT3 gain-of-function mutations associated with autoimmune lymphoproliferative syndrome like disease deregulate lymphocyte apoptosis and can be targeted by BH3 mimetic compounds, Clin Immunol Orlando Fla, vol.181, pp.32-42, 2017.

T. Velayos, R. Martínez, M. Alonso, K. Garcia-etxebarria, A. Aguayo et al., An activating mutation in STAT3 results in neonatal diabetes through reduced insulin synthesis, Diabetes, vol.66, pp.1022-1031, 2017.

C. Besnard, E. Levy, N. Aladjidi, M. Stolzenberg, A. Magerus-chatinet et al., Pediatric-onset Evans syndrome: heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations, Clin Immunol, vol.188, pp.52-59, 2018.
URL : https://hal.archives-ouvertes.fr/hal-02349435

A. Fabre, S. Marchal, L. R. Forbes, T. P. Vogel, V. Barlogis et al., STAT3 GOF: a new kid on the block in interstitial lung diseases, Am J Respir Crit Care Med, vol.197, pp.22-25, 2018.

M. Gutiérrez, P. Scaglia, A. Keselman, L. Martucci, L. Karabatas et al., Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations, Mol Cell Endocrinol, vol.473, pp.166-77, 2018.

M. A. Russell, M. Pigors, M. E. Houssen, A. Manson, D. Kelsell et al., A novel de novo activating mutation in STAT3 identified in a patient with common variable immunodeficiency (CVID), Clin Immunol Orlando Fla, vol.187, pp.132-138, 2018.

M. Takagi, A. Hoshino, K. Yoshida, H. Ueno, K. Imai et al., Genetic heterogeneity of uncharacterized childhood autoimmune diseases with lymphoproliferation, Pediatr Blood Cancer, vol.65, p.26831, 2018.

L. Giovannini-chami, T. P. Vogel, L. R. Forbes, A. Fabre, M. Trojani et al., STAT3 gain of function: a new aetiology of severe rheumatic disease, Rheumatology, vol.58, pp.365-372, 2019.

C. Camarero, F. Leon, E. Colino, C. Redondo, M. Alonso et al., Collagenous colitis in children: clinicopathologic, microbiologic, and immunologic features, J Pediatr Gastroenterol Nutr, vol.37, pp.508-521, 2003.

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.

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

T. I. Coulter, A. Chandra, C. M. Bacon, J. Babar, J. Curtis et al., Clinical spectrum and features of activated phosphoinositide 3-kinase d syndrome: a large patient cohort study, J Allergy Clin Immunol, vol.139, pp.597-606, 2017.

B. Neven, A. Magerus-chatinet, B. Florkin, D. Gobert, O. Lambotte et al., A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation, Blood, vol.118, pp.4798-807, 2011.

F. Barzaghi, A. Hernandez, L. C. Neven, B. Ricci, S. Kucuk et al., Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study, J Allergy Clin Immunol, vol.141, pp.1036-1049, 2018.

V. Hwa, STAT5B deficiency: impacts on human growth and immunity, vol.28, pp.16-20, 2016.

J. Toubiana, S. Okada, J. Hiller, M. Oleastro, L. Gomez et al., Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype, Blood, vol.127, pp.3154-64, 2016.

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, pp.1139-1186, 2003.

D. V. Pechkovsky, C. M. Prêle, J. Wong, C. M. Hogaboam, R. J. Mcanulty et al., STAT3-mediated signaling dysregulates lung fibroblastmyofibroblast activation and differentiation in UIP/IPF, Am J Pathol, vol.180, pp.1398-412, 2012.

. References-e1, S. E. Flanagan, E. Haapaniemi, M. A. Russell, R. Caswell et al., Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease, Nat Genet, vol.46, pp.812-816, 2014.

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.591-600, 2015.

. E3, E. M. Haapaniemi, M. Kaustio, H. Rajala, A. J. Van-adrichem et al., Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3, Blood, vol.125, pp.639-687, 2015.

J. Wienke, W. Janssen, R. Scholman, H. Spits, M. Van-gijn et al., A novel human STAT3 mutation presents with autoimmunity involving Th17 hyperactivation, Oncotarget, vol.6, pp.20037-20079, 2015.

P. Maffucci, C. A. Filion, B. Boisson, Y. Itan, L. Shang et al., Genetic diagnosis using whole exome sequencing in common variable immunodeficiency, Front Immunol, vol.7, p.220, 2016.

C. Lau, A. D. Mihalek, J. Wang, L. E. Dodd, K. Perkins et al., Pulmonary manifestations of the autoimmune lymphoproliferative syndrome. A retrospective study of a unique patient cohort, Ann Am Thorac Soc, vol.13, pp.1279-88, 2016.

M. A. Russell, M. Pigors, M. E. Houssen, A. Manson, D. Kelsell et al., A novel de novo activating mutation in STAT3 identified in a patient with common variable immunodeficiency (CVID), Clin Immunol Orlando Fla, vol.187, pp.132-138, 2018.

T. Velayos, R. Martínez, M. Alonso, K. Garcia-etxebarria, A. Aguayo et al., An activating mutation in STAT3 results in neonatal diabetes through reduced insulin synthesis, Diabetes, vol.66, pp.1022-1031, 2017.

H. Sediva, P. Dusatkova, V. Kanderova, B. Obermannova, J. Kayserova et al., Short stature in a boy with multiple early-onset autoimmune conditions due to a STAT3 activating mutation: could intracellular growth hormone signalling be compromised?, Horm Res Paediatr, vol.88, pp.160-166, 2017.

. E10, S. Nabhani, C. Schipp, H. Miskin, C. Levin et al., STAT3 gain-of-function mutations associated with autoimmune lymphoproliferative syndrome like disease deregulate lymphocyte apoptosis and can be targeted by BH3 mimetic compounds, Clin Immunol Orlando Fla, vol.181, pp.32-42, 2017.

T. Khoury, V. Molho-pessach, Y. Ramot, A. R. Ayman, O. Elpeleg et al., Tocilizumab promotes regulatory T-cell alleviation in STAT3 gain-offunctioneassociated multi-organ autoimmune syndrome, Clin Ther, vol.39, pp.444-453, 2017.

. E12, M. A. Weinreich, T. P. Vogel, V. K. Rao, and J. D. Milner, Up, down, and all around: diagnosis and treatment of novel STAT3 variant, Front Pediatr, vol.5, p.49, 2017.

M. Gutiérrez, P. Scaglia, A. Keselman, L. Martucci, L. Karabatas et al., Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations, Mol Cell Endocrinol, vol.473, pp.166-77, 2018.

C. Besnard, E. Levy, N. Aladjidi, M. Stolzenberg, A. Magerus-chatinet et al., Pediatric-onset Evans syndrome: heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations, Clin Immunol, vol.188, pp.52-59, 2018.
URL : https://hal.archives-ouvertes.fr/hal-02349435

A. Fabre, S. Marchal, L. R. Forbes, T. P. Vogel, V. Barlogis et al., STAT3 GOF: a new kid on the block in interstitial lung diseases, Am J Respir Crit Care Med, vol.197, pp.22-25, 2018.

M. Takagi, A. Hoshino, K. Yoshida, H. Ueno, K. Imai et al., Genetic heterogeneity of uncharacterized childhood autoimmune diseases with lymphoproliferation, Pediatr Blood Cancer, vol.65, p.26831, 2018.

L. R. Forbes, T. P. Vogel, M. A. Cooper, J. Castro-wagner, E. Schussler et al., Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations, J Allergy Clin Immunol, vol.142, pp.1665-1674, 2018.

. E18, L. Giovannini-chami, T. P. Vogel, L. R. Forbes, A. Fabre et al., STAT3 gain of function: a new aetiology of severe rheumatic disease, Rheumatology, vol.58, pp.365-372, 2019.

. E19, C. Camarero, L. F. Colino, E. Redondo, C. Alonso et al., Collagenous colitis in children: clinicopathologic, microbiologic, and immunologic features, J Pediatr Gastroenterol Nutr, vol.37, pp.508-521, 2003.

J. Allergy, . Immunol, . Volume--, and . Number--«, Au moment d'être admis(e) à exercer la médecine, je promets et je jure d'être fidèle aux lois de l'honneur et de la probité

, Mon premier souci sera de rétablir, de préserver ou de promouvoir la santé dans tous ses éléments, physiques et mentaux, individuels et sociaux

, Je respecterai toutes les personnes, leur autonomie et leur volonté, sans aucune discrimination selon leur état ou leurs convictions. J'interviendrai pour les protéger si elles sont affaiblies

, Même sous la contrainte, je ne ferai pas usage de mes connaissances contre les lois de l'humanité

, Je ne tromperai jamais leur confiance et n'exploiterai pas le pouvoir hérité des circonstances pour forcer les consciences

, Je ne me laisserai pas influencer par la soif du gain ou la recherche de la gloire

, Admis(e) dans l'intimité des personnes, je tairai les secrets qui me seront confiés

, Reçu(e) à l'intérieur des maisons, je respecterai les secrets des foyers et ma conduite ne servira pas à corrompre les moeurs

, Je ne prolongerai pas abusivement les agonies. Je ne provoquerai jamais la mort délibérément

, Je n'entreprendrai rien qui dépasse mes compétences. Je les entretiendrai et les perfectionnerai pour assurer au mieux les services qui me seront demandés

, J'apporterai mon aide à mes confrères ainsi qu'à leurs familles dans l'adversité

, Que les hommes et mes confrères m'accordent leur estime si je suis fidèle à mes promesses

, que je sois déshonoré(e) et méprisé(e) si j'y manque