P02-014 - Consequences of Arginine 92 mutations in TNFR1
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چکیده
منابع مشابه
P02-014 - Consequences of Arginine 92 mutations in TNFR1
Introduction TNFRSF1A is involved in a Mendelian autosomal dominant autoinflammatory disorder called TNFR-associated periodic syndrome (TRAPS). Most TNFRSF1A mutations are missense changes and, apart from those affecting conserved cysteines, their deleterious effect remains often questionable. This is especially true for the frequent R92Q mutation, which might not be responsible for TRAPS per s...
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Introduction Familial Mediterranean Fever (FMF) is considered a rare disease in Japan. Our institution began screening for MEFV gene mutations in patients with periodic fever in 2005. Among the 18 patients screened, we have identified 11 (56.5%) FMF patients with heterozygous M694I/E148Q mutations. Among the other 7 patients, no pathogenic mutations were detected by the direct sequencing of all...
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Introduction Loss-of-function mutations in the IL36RN gene define a novel recessively inherited autoinflammatory syndrome named deficiency of IL-36 receptor antagonist (DITRA). This genetically determined deficiency was first described in a subgroup of patients with generalized pustular psoriasis. It is a life-threatening condition characterized by recurrent episodes of severe skin inflammation...
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Introduction Cryopyrin-associated periodic syndromes (CAPS) are a group of dominantly inherited disorders caused by gainof-function NLRP3 mutations. These disorders represent different degrees of severity of a same disease being familial cold autoinflammatory syndrome the milder form, Muckle-Wells syndrome an intermediate form and chronic infantile neurologic cutaneous and articular syndrome th...
متن کاملInvolvement of the Same TNFR1 Residue in Mendelian and Multifactorial Inflammatory Disorders
OBJECTIVES TNFRSF1A is involved in an autosomal dominant autoinflammatory disorder called TNFR-associated periodic syndrome (TRAPS). Most TNFRSF1A mutations are missense changes and, apart from those affecting conserved cysteines, their deleterious effect remains often questionable. This is especially true for the frequent R92Q mutation, which might not be responsible for TRAPS per se but repre...
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ژورنال
عنوان ژورنال: Pediatric Rheumatology
سال: 2013
ISSN: 1546-0096
DOI: 10.1186/1546-0096-11-s1-a121