Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease, Nat Genet, vol.46, pp.812-816, 2014. ,
STAT3 mutations in the hyper-IgE syndrome, N Engl J Med, vol.357, pp.1608-1627, 2007. ,
The ying and yang of STAT3 in human disease, J Clin Immunol, vol.35, pp.615-638, 2015. ,
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations, Blood, vol.125, pp.591-600, 2015. ,
STAT3 signaling in immunity, Cytokine Growth Factor Rev, vol.31, pp.1-15, 2016. ,
Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3, Blood, vol.125, pp.639-687, 2015. ,
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. ,
Analysis of protein-coding genetic variation in 60,706 humans, Nature, vol.536, pp.285-91, 2016. ,
ExACtly zero or once: a clinically helpful guide to assessing genetic variants in mild epilepsies, Neurol Genet, vol.3, p.163, 2017. ,
A novel human STAT3 mutation presents with autoimmunity involving Th17 hyperactivation, Oncotarget, vol.6, pp.20037-20079, 2015. ,
Genetic diagnosis using whole exome sequencing in common variable immunodeficiency, Front Immunol, vol.7, p.220, 2016. ,
STAT3: too much may be worse than not enough!, Blood, vol.125, pp.583-587, 2015. ,
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. ,
Tocilizumab promotes regulatory T-cell alleviation in STAT3 gain-offunctioneassociated multi-organ autoimmune syndrome, Clin Ther, vol.39, pp.444-453, 2017. ,
Up, down, and all around: diagnosis and treatment of novel STAT3 variant, Front Pediatr, vol.5, p.49, 2017. ,
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. ,
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. ,
An activating mutation in STAT3 results in neonatal diabetes through reduced insulin synthesis, Diabetes, vol.66, pp.1022-1031, 2017. ,
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
STAT3 GOF: a new kid on the block in interstitial lung diseases, Am J Respir Crit Care Med, vol.197, pp.22-25, 2018. ,
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. ,
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. ,
Genetic heterogeneity of uncharacterized childhood autoimmune diseases with lymphoproliferation, Pediatr Blood Cancer, vol.65, p.26831, 2018. ,
STAT3 gain of function: a new aetiology of severe rheumatic disease, Rheumatology, vol.58, pp.365-372, 2019. ,
Collagenous colitis in children: clinicopathologic, microbiologic, and immunologic features, J Pediatr Gastroenterol Nutr, vol.37, pp.508-521, 2003. ,
Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations, Nat Med, vol.20, pp.1410-1416, 2014. ,
The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency, J Allergy Clin Immunol, vol.137, pp.223-253, 2016. ,
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. ,
A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation, Blood, vol.118, pp.4798-807, 2011. ,
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. ,
, STAT5B deficiency: impacts on human growth and immunity, vol.28, pp.16-20, 2016.
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype, Blood, vol.127, pp.3154-64, 2016. ,
Growth hormone insensitivity associated with a STAT5b mutation, N Engl J Med, vol.349, pp.1139-1186, 2003. ,
STAT3-mediated signaling dysregulates lung fibroblastmyofibroblast activation and differentiation in UIP/IPF, Am J Pathol, vol.180, pp.1398-412, 2012. ,
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease, Nat Genet, vol.46, pp.812-816, 2014. ,
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations, Blood, vol.125, pp.591-600, 2015. ,
Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3, Blood, vol.125, pp.639-687, 2015. ,
A novel human STAT3 mutation presents with autoimmunity involving Th17 hyperactivation, Oncotarget, vol.6, pp.20037-20079, 2015. ,
Genetic diagnosis using whole exome sequencing in common variable immunodeficiency, Front Immunol, vol.7, p.220, 2016. ,
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. ,
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. ,
An activating mutation in STAT3 results in neonatal diabetes through reduced insulin synthesis, Diabetes, vol.66, pp.1022-1031, 2017. ,
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. ,
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. ,
Tocilizumab promotes regulatory T-cell alleviation in STAT3 gain-offunctioneassociated multi-organ autoimmune syndrome, Clin Ther, vol.39, pp.444-453, 2017. ,
Up, down, and all around: diagnosis and treatment of novel STAT3 variant, Front Pediatr, vol.5, p.49, 2017. ,
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. ,
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
STAT3 GOF: a new kid on the block in interstitial lung diseases, Am J Respir Crit Care Med, vol.197, pp.22-25, 2018. ,
Genetic heterogeneity of uncharacterized childhood autoimmune diseases with lymphoproliferation, Pediatr Blood Cancer, vol.65, p.26831, 2018. ,
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. ,
STAT3 gain of function: a new aetiology of severe rheumatic disease, Rheumatology, vol.58, pp.365-372, 2019. ,
Collagenous colitis in children: clinicopathologic, microbiologic, and immunologic features, J Pediatr Gastroenterol Nutr, vol.37, pp.508-521, 2003. ,
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