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• W2913302274 abstract "Autoinflammatory diseases are characterized by innate immunity abnormalities. In autoinflammatory diseases (AID), inflammatory blood biomarkers are elevated during crisis without infection and usually without autoantibodies. The first 4 described AID were familial Mediterranean fever, cryopyrin-associated periodic fever syndrome (CAPS) or NLRP3-associated autoinflammatory disease (NRLP3-AID), mevalonate kinase deficiency (MKD) and TNFRSF1A-receptor associated periodic fever syndrome (TRAPS). Since their description 20 years ago, and with the progresses of genetic analysis, many new diseases have been discovered; some with recurrent fever, others with predominant cutaneous symptoms or even immune deficiency. After describing the 4 historical recurrent fevers, some polygenic inflammatory diseases will also be shortly described such as Still disease and periodic fever with adenitis, pharyngitis and aphtous (PFAPA) syndrome. To better explore AID, some key anamnesis features are crucial such as the family tree, the age at onset, crisis length and organs involved in the clinical symptoms. An acute phase response is mandatory in crisis.In this issueEditorial.G. Grateau et al. (France)Autoinflammatory diseases: state of the art.S. Georgin-Lavialle et al. (France)How to prescribe a genetic test for the diagnosis of autoinflammatory diseases?D.M. Rowczenio et al. (United Kingdom)Familial Mediterranean fever.H. Ozdogan et al. (Turkey)Periodic Fever, Aphthous stomatitis, Pharyngitis, and cervical Adenitis syndrome–PFAPA syndrome.P. Wekell (Sweden)GlossaryAPLAIDAutoinflammation and PLCg2-associated Antibody deficiency and Immune DysregulationCAMPSCARD14-mediated pustular psoriasis = CARD14-associated psoriasisCANDLEchronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndromeCAPScryopyrin-associated periodic fever syndrome = NLRP3-associated autoinflammatory disease (NLRP3-AID)CINCAChronic infantile neurological, cutaneous and articular syndromeDIRADeficiency of the IL-1 receptor antagonistDITRADeficiency of the IL-36 receptor antagonistDUBdeubiquitinaseFCASFamilial cold autoinflammatory syndromeFCAS2Familial cold autoinflammatory syndrome 2 (NLRP12-associated autoinflammatory disease)FMFFamilial Mediterranean feverHA20A20 haploinsufficiencyLUBACLinear ubiquitin chain assembling complexMKDmevalonate kinase deficiencyMWSMuckle Wells syndromeNAIADNLRP1-associated autoinflammation with arthritis and dyskeratosisNAIDNOD2-associated autoinflammatory diseasesNLRC4-MASNLRC4 associated macrophage activation syndromeORASOtulin related autoinflammatory syndromePAANDPyrin-associated autoinflammation with neutrophilic dermatosisPAIDPSTPIP1-associated autoinflammatory diseasesPAMIPSTPiP1-Associated Myeloid-related-proteinemia Inflammatory syndromePAPAsyndrome pyogenic arthritis, pyoderma gangrenosum and acnePAPASHPSTPiP1-associated Pyoderma gangrenosum, Acne and Hidradenitis SuppurativaPACPyoderma gangrenosum, Acne and ulcerative ColitisPFAPAPeriodic Fever Aphtous Stomatitis Pharyngitis AdenitisPFITPeriodic Fever with Immunodeficiency and ThrombocytopeniaPLAIDPLCg2-associated Antibody deficiency and Immune DysregulationSAVISTING-associated vasculopathy with onset in infancySIFDSideroblastic anemia with B-cell Immunodeficiency, periodic Fevers and Developmental delayTNFRSF11ATNF11α-Receptor associated periodic syndromeTRAPSTNF-Receptor associated periodic syndrome In this issue Editorial. G. Grateau et al. (France) Autoinflammatory diseases: state of the art. S. Georgin-Lavialle et al. (France) How to prescribe a genetic test for the diagnosis of autoinflammatory diseases? D.M. Rowczenio et al. (United Kingdom) Familial Mediterranean fever. H. Ozdogan et al. (Turkey) Periodic Fever, Aphthous stomatitis, Pharyngitis, and cervical Adenitis syndrome–PFAPA syndrome. P. Wekell (Sweden) Glossary Autoinflammation and PLCg2-associated Antibody deficiency and Immune Dysregulation CARD14-mediated pustular psoriasis = CARD14-associated psoriasis chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome cryopyrin-associated periodic fever syndrome = NLRP3-associated autoinflammatory disease (NLRP3-AID) Chronic infantile neurological, cutaneous and articular syndrome Deficiency of the IL-1 receptor antagonist Deficiency of the IL-36 receptor antagonist deubiquitinase Familial cold autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 (NLRP12-associated autoinflammatory disease) Familial Mediterranean fever A20 haploinsufficiency Linear ubiquitin chain assembling complex mevalonate kinase deficiency Muckle Wells syndrome NLRP1-associated autoinflammation with arthritis and dyskeratosis NOD2-associated autoinflammatory diseases NLRC4 associated macrophage activation syndrome Otulin related autoinflammatory syndrome Pyrin-associated autoinflammation with neutrophilic dermatosis PSTPIP1-associated autoinflammatory diseases PSTPiP1-Associated Myeloid-related-proteinemia Inflammatory syndrome syndrome pyogenic arthritis, pyoderma gangrenosum and acne PSTPiP1-associated Pyoderma gangrenosum, Acne and Hidradenitis Suppurativa Pyoderma gangrenosum, Acne and ulcerative Colitis Periodic Fever Aphtous Stomatitis Pharyngitis Adenitis Periodic Fever with Immunodeficiency and Thrombocytopenia PLCg2-associated Antibody deficiency and Immune Dysregulation STING-associated vasculopathy with onset in infancy Sideroblastic anemia with B-cell Immunodeficiency, periodic Fevers and Developmental delay TNF11α-Receptor associated periodic syndrome TNF-Receptor associated periodic syndrome" @default.
• W2913302274 created "2019-02-21" @default.
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• W2913302274 date "2019-02-01" @default.
• W2913302274 modified "2023-10-14" @default.
• W2913302274 title "Autoinflammatory diseases: State of the art" @default.
• W2913302274 cites W1581139251 @default.
• W2913302274 cites W1895520487 @default.
• W2913302274 cites W1901519808 @default.
• W2913302274 cites W1901914253 @default.
• W2913302274 cites W1951926033 @default.
• W2913302274 cites W1964034086 @default.
• W2913302274 cites W1973264816 @default.
• W2913302274 cites W1980103460 @default.
• W2913302274 cites W1981093010 @default.
• W2913302274 cites W1988473650 @default.
• W2913302274 cites W1991469562 @default.
• W2913302274 cites W1999545514 @default.
• W2913302274 cites W2000017388 @default.
• W2913302274 cites W2002880979 @default.
• W2913302274 cites W2004380761 @default.
• W2913302274 cites W2010286010 @default.
• W2913302274 cites W2012883414 @default.
• W2913302274 cites W2015206858 @default.
• W2913302274 cites W2015310325 @default.
• W2913302274 cites W2015602908 @default.
• W2913302274 cites W2017237017 @default.
• W2913302274 cites W2018915861 @default.
• W2913302274 cites W2028368428 @default.
• W2913302274 cites W2035113730 @default.
• W2913302274 cites W2046749021 @default.
• W2913302274 cites W2048255272 @default.
• W2913302274 cites W2049236958 @default.
• W2913302274 cites W2051103578 @default.
• W2913302274 cites W2052981208 @default.
• W2913302274 cites W2053114531 @default.
• W2913302274 cites W2055177114 @default.
• W2913302274 cites W2072324099 @default.
• W2913302274 cites W2078659014 @default.
• W2913302274 cites W2081420658 @default.
• W2913302274 cites W2083447941 @default.
• W2913302274 cites W2084129561 @default.
• W2913302274 cites W2086531279 @default.
• W2913302274 cites W2086655991 @default.
• W2913302274 cites W2086955596 @default.
• W2913302274 cites W2096156278 @default.
• W2913302274 cites W2102260696 @default.
• W2913302274 cites W2103599902 @default.
• W2913302274 cites W2104596398 @default.
• W2913302274 cites W2107751249 @default.
• W2913302274 cites W2108299947 @default.
• W2913302274 cites W2110490641 @default.
• W2913302274 cites W2110506158 @default.
• W2913302274 cites W2115060546 @default.
• W2913302274 cites W2117679109 @default.
• W2913302274 cites W2124369311 @default.
• W2913302274 cites W2124958019 @default.
• W2913302274 cites W2129572938 @default.
• W2913302274 cites W2131213271 @default.
• W2913302274 cites W2133982636 @default.
• W2913302274 cites W2136935019 @default.
• W2913302274 cites W2140135054 @default.
• W2913302274 cites W2140276493 @default.
• W2913302274 cites W2144259303 @default.
• W2913302274 cites W2148873708 @default.
• W2913302274 cites W2149374693 @default.
• W2913302274 cites W2156994068 @default.
• W2913302274 cites W2158754862 @default.
• W2913302274 cites W2159587574 @default.
• W2913302274 cites W2159847506 @default.
• W2913302274 cites W2162822903 @default.
• W2913302274 cites W2167386831 @default.
• W2913302274 cites W2169256014 @default.
• W2913302274 cites W2170072500 @default.
• W2913302274 cites W2170466239 @default.
• W2913302274 cites W2174456205 @default.
• W2913302274 cites W2194309244 @default.
• W2913302274 cites W2262791344 @default.
• W2913302274 cites W2277049958 @default.
• W2913302274 cites W2293796820 @default.
• W2913302274 cites W2295097092 @default.
• W2913302274 cites W2310667568 @default.
• W2913302274 cites W2318897927 @default.
• W2913302274 cites W2324425986 @default.
• W2913302274 cites W2338282253 @default.
• W2913302274 cites W2345467869 @default.
• W2913302274 cites W2346646709 @default.
• W2913302274 cites W2398954736 @default.
• W2913302274 cites W2407551672 @default.
• W2913302274 cites W2414514050 @default.
• W2913302274 cites W2415933229 @default.
• W2913302274 cites W2418840180 @default.
• W2913302274 cites W2418846788 @default.

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