about
ADA2 deficiency: case report of a new phenotype and novel mutation in two sistersDiagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts.The autoinflammatory diseases: a fashion with blurred boundaries!Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis).The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions.[Mevalonate kinase deficiency in 2016].The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions.Clinical dose effect and functional consequences of R92Q in two families presenting with a TRAPS/PFAPA-like phenotype.Criteria for CAPS, is it all in the name?[Multiple facets of ADA2 deficiency: Vasculitis, auto-inflammatory disease and immunodeficiency: A literature review of 135 cases from literature].Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience.[NLRC4 associated autoinflammatory diseases: A systematic review of the current literature].Identification of three ADA2 deficiency families with novel CECR1 mutations.Digenic MEFV/TNFRSF1A autoinflammatory syndrome with relapsing aseptic neutrophilic meningitis and chronic myelitis.Autoinflammation. Management of hereditary recurrent fevers--SHARE experience.[Clinical overview of auto-inflammatory diseases].NGS for the diagnosis of autoinflammatory diseases: the experience of Montpellier.First report of MEFV duplication in FMF patient.The Changing Concepts Regarding the Mediterranean Fever Gene: Toward a Spectrum of Pyrin-Associated Autoinflammatory Diseases with Variable HeredityChronic leg ulcer revealing adenosine deaminase 2 deficiency: an atypical presentationMosaicism in autoinflammatory diseases: Cryopyrin-associated periodic syndromes (CAPS) and beyond. A systematic review[Tumor necrosis receptor associated periodic syndrome (TRAPS): State of the art]'A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease'Large deletion in 6q associated to A20 haploinsufficiency and thoracoabdominal heterotaxyAutosomic dominant familial Behçet disease and haploinsufficiency A20: A review of the literatureDominant familial Mediterranean feverReply to Sönmez et alPSMB10, the last immunoproteasome gene missing for PRAASSuccessful therapy with secukinumab in a patient with generalized pustular psoriasis carrying homozygous IL36RN p.His32Arg mutationNew data in causes of autoinflammatory diseases
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P50
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հետազոտող
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Guillaume Sarrabay
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Guillaume Sarrabay
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Guillaume Sarrabay
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Guillaume Sarrabay
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Guillaume Sarrabay
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Guillaume Sarrabay
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Guillaume Sarrabay
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Guillaume Sarrabay
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Guillaume Sarrabay
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Guillaume Sarrabay
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Guillaume Sarrabay
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Guillaume Sarrabay
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P106
P31
P496
0000-0002-9943-9368