Genomics and the multifactorial nature of human autoimmune disease, N Engl J Med, vol.365, issue.17, pp.1612-1623, 2011. ,
Genetic sharing and heritability of paediatric age of onset autoimmune diseases, Nat Commun, vol.6, issue.1, p.8442, 2015. ,
Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies, J Allergy Clin Immunol, vol.140, issue.5, pp.1388-1393, 2017. ,
URL : https://hal.archives-ouvertes.fr/hal-01783653
Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity, Science, vol.268, issue.5215, pp.1347-1349, 1995. ,
Dominant mutations in the autoimmune regulator AIRE are associated with common organ-specific autoimmune diseases, Immunity, vol.42, issue.6, pp.1185-1196, 2015. ,
The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3, Nat Genet, vol.27, issue.1, pp.20-21, 2001. ,
What do primary immunodeficiencies tell us about the essentiality/redundancy of immune responses?, Semin Immunol, vol.36, pp.13-16, 2018. ,
Reestablishing immunological self-tolerance in autoimmune disease, Nat Med, vol.18, issue.4, p.630, 2012. ,
, Nat Med, vol.18, issue.1, pp.54-58, 2012.
Control of the inheritance of regulatory T cell identity by a cis element in the Foxp3 locus, Cell, vol.158, issue.4, pp.749-763, 2014. ,
Regulatory T cells exert checks and balances on self tolerance and autoimmunity, Nat Immunol, vol.11, issue.1, pp.7-13, 2010. ,
Checkpoints that control B cell development, J Clin Invest, vol.125, issue.6, pp.2203-2210, 2015. ,
Primary thrombocytopenic purpura and acquired hemolytic anemia; evidence for a common etiology, AMA Arch Intern Med, vol.87, issue.1, pp.48-65, 1951. ,
The spectrum of Evans' syndrome, Arch Dis Child, vol.77, issue.3, pp.245-248, 1997. ,
, Members of the French Reference Center for Pediatric Autoimmune Cytopenias (CEREVANCE)
, Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations, Clin Immunol, vol.188, pp.52-57, 2018.
A simple salting out procedure for extracting DNA from human nucleated cells, Nucleic Acids Res, vol.16, issue.3, p.1215, 1988. ,
Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations, Nat Med, vol.20, issue.12, pp.1410-1416, 2014. ,
Phosphoinositide 3-kinase d gene mutation predisposes to respiratory infection and airway damage, Science, vol.342, issue.6160, pp.866-871, 2013. ,
Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects, J Allergy Clin Immunol, vol.142, issue.6, pp.1932-1946, 2018. ,
FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome, J Immunol, vol.186, issue.10, pp.6035-6043, 2011. ,
Autoimmune disease. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy, Science, vol.349, issue.6246, pp.436-440, 2015. ,
The ying and yang of STAT3 in human disease, J Clin Immunol, vol.35, issue.7, pp.615-623, 2015. ,
Up, down, and all around: diagnosis and treatment of novel STAT3 variant, Front Pediatr, vol.5, p.49, 2017. ,
, Blood, vol.123, issue.2, pp.281-289, 2014.
Earlyonset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations, Blood, vol.125, issue.4, pp.591-599, 2015. ,
Loss of B cells in patients with heterozygous mutations in IKAROS, N Engl J Med, vol.374, issue.11, pp.1032-1043, 2016. ,
Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency, J Clin Invest, vol.128, issue.7, pp.3071-3087, 2018. ,
URL : https://hal.archives-ouvertes.fr/hal-02343581
Heterozygous germline IKZF1 gain-offunction mutation causes chilldhood-onset polyautoimmunity and lymphoproliferation, Proceedings from the 18th biennial European Society for Immunodeficiencies, pp.24-27, 2018. ,
The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency, J Allergy Clin Immunol, vol.134, issue.2, pp.276-284, 2014. ,
Congenital B cell lymphocytosis explained by novel germline CARD11 mutations, J Exp Med, vol.209, issue.12, pp.2247-2261, 2012. ,
Combined immunodeficiency and atopy caused by a dominant negative mutation in caspase activation and recruitment domain family member 11 (CARD11), J Allergy Clin Immunol, vol.141, issue.5, pp.1818-1830, 2018. ,
Germline hypomorphic CARD11 mutations in severe atopic disease, Nat Genet, vol.49, issue.11, p.1661, 2017. ,
, Nat Genet, vol.49, issue.8, pp.1192-1201, 2017.
Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease, J Allergy Clin Immunol, vol.143, issue.4, pp.1482-1495, 2019. ,
Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions, N Engl J Med, vol.366, issue.4, pp.330-338, 2012. ,
A hypermorphic missense mutation in PLCG2, encoding phospholipase Cg2, causes a dominantly inherited autoinflammatory disease with immunodeficiency, Am J Hum Genet, vol.91, issue.4, pp.713-720, 2012. ,
Novel PLCG2 mutation in a patient with APLAID and cutis laxa, Front Immunol, vol.9, p.2863, 2018. ,
JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome, J Allergy Clin Immunol, vol.139, issue.6, pp.2016-2020, 2017. ,
Human IFNAR1 deficiency causes an inborn error of immunity with increased susceptibility to viral infections, Proceedings from the 18th biennial European Society for Immunodeficiencies, vol.24, 2018. ,
Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature, Proc Natl Acad Sci, vol.109, issue.11, pp.4257-4262, 2012. ,
RAS-associated lymphoproliferative disease evolves into severe juvenile myelo-monocytic leukemia, Blood, vol.123, issue.12, pp.1960-1963, 2014. ,
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2, Nat Genet, vol.37, issue.3, pp.275-281, 2005. ,
Evans syndrome in children: long-term outcome in a prospective French national observational cohort, Front Pediatr, vol.3, p.79, 2015. ,
URL : https://hal.archives-ouvertes.fr/hal-02413085
Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies, J Allergy Clin Immunol, vol.133, issue.2, pp.529-534, 2014. ,
New insights into childhood autoimmune hemolytic anemia: a French national observational study of 265 children, Haematologica, 2011. ,
URL : https://hal.archives-ouvertes.fr/hal-01120646
Epidemiology of incident immune thrombocytopenia: a nationwide population-based study in France, Blood, vol.124, issue.22, pp.3308-3315, 2014. ,
The spectrum of Evans syndrome in adults: new insight into the disease based on the analysis of 68 cases, Blood, vol.114, issue.15, pp.3167-3172, 2009. ,
Unmasking Evans syndrome: T-cell phenotype and apoptotic response reveal autoimmune lymphoproliferative syndrome (ALPS), Blood, vol.105, issue.6, pp.2443-2448, 2005. ,
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease, Nat Genet, vol.46, issue.8, pp.812-814, 2014. ,
An immunodeficiency disease with RAG mutations and granulomas, N Engl J Med, vol.358, pp.2030-2038, 2008. ,
Autoimmune lymphoproliferative syndromelike disease with somatic KRAS mutation, Blood, vol.117, issue.10, pp.2887-2890, 2011. ,
Mutations in CBL occur frequently in juvenile myelomonocytic leukemia, Blood, vol.114, issue.9, pp.1859-1863, 2009. ,
A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation, Blood, vol.118, issue.18, pp.4798-4807, 2011. ,
Clinical spectrum and features of activated phosphoinositide 3-kinase d syndrome: a large patient cohort study, J Allergy Clin Immunol, vol.139, issue.2, pp.597-606, 2017. ,
Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection, Nat Commun, vol.7, p.13992, 2016. ,
Use of rituximab for refractory cytopenias associated with autoimmune lymphoproliferative syndrome (ALPS). Pediatr Blood Cancer, 2009. ,
TGFb receptor mutations impose a strong predisposition for human allergic disease, Sci Transl Med, vol.5, pp.195-94, 0195. ,
Gene-gene interaction in regulatory T-cell function in atopy and asthma development in childhood, J Allergy Clin Immunol, vol.126, issue.2, pp.1-10, 2010. ,
Helios enhances Treg cell function in cooperation with FoxP3, Arthritis Rheumatol, vol.67, issue.6, pp.1491-1502, 2015. ,
Induction of apoptosis in mature T cells by tumour necrosis factor, Nature, vol.377, issue.6547, pp.348-351, 1995. ,
Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis, Immunity, vol.33, issue.3, pp.400-411, 2010. ,
Stimulation of the B-cell receptor activates the JAK2/STAT3 signaling pathway in chronic lymphocytic leukemia cells, Blood, vol.123, issue.24, pp.3797-3802, 2014. ,
PLC-gamma2 is essential for formation and maintenance of memory B cells, J Exp Med, vol.206, issue.3, pp.681-689, 2009. ,
Gain-of-function/Noonan syndrome SHP-2/Ptpn11 mutants enhance calcium oscillations and impair NFAT signaling, Proc Natl Acad Sci, vol.103, issue.7, pp.2160-2165, 2006. ,
NFATc1 controls the cytotoxicity of CD8+ T cells, Nat Commun, vol.8, issue.1, p.511, 2017. ,
NFATc1 affects mouse splenic B cell function by controlling the calcineurin--NFAT signaling network, J Exp Med, vol.208, issue.4, pp.823-839, 2011. ,
Feedback regulation on PTEN/AKT pathway by the ER stress kinase PERK mediated by interaction with the Vault complex, Cell Signal, vol.27, issue.3, pp.436-442, 2015. ,
Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations, J Allergy Clin Immunol, vol.140, issue.1, pp.223-231, 2017. ,
XIAP mediates NOD signaling via interaction with RIP2, Proc Natl Acad Sci USA, vol.106, issue.34, pp.14524-14529, 2009. ,
Apaf1 (CED-4 homolog) regulates programmed cell death in mammalian development, Cell, vol.94, issue.6, pp.727-737, 1998. ,
Limited statistical evidence for shared genetic effects of eQTLs and autoimmune-diseaseassociated loci in three major immune-cell types, Nat Genet, vol.49, issue.4, pp.600-605, 2017. ,
Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation, J Clin Invest, vol.121, issue.1, pp.106-112, 2011. ,
Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome, Haematologica, vol.102, issue.2, pp.52-56, 2017. ,
activated PI3Kd syndrome"-targeted therapy with the PI3Kd inhibitor leniolisib, Blood, vol.130, issue.21, pp.2307-2316, 2017. ,
Treatment with cyclosporin in auto-immune cytopenias in children: the experience from the French cohort OBS'CEREVANCE, Am J Hematol, 2018. ,
Germinal center antibody mutation trajectories are determined by rapid self/foreign discrimination, Science, vol.360, issue.6385, pp.223-226, 2018. ,
Genes, pathways and checkpoints in lymphocyte development and homeostasis, Immunol Cell Biol, 2005. ,
, , 2019.
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, Elodie Colomb Bottollier, Fanny Fouyssac, Rosain, Cécile Fourrage, Sylvain Hanein, Mohammed Zarhrate, Marlène Pasquet, Wadih Abou Fabienne Mazerolles
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