P02-023 - NLRP3 mosaicism as a cause of late-onset CAPS
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چکیده
منابع مشابه
P02-023 - NLRP3 mosaicism as a cause of late-onset CAPS
Introduction The dominantly inherited cryopyrin-associated periodic syndromes (CAPS) are caused by heterozygous missense gain-of-function mutations in the NLRP3 (CIAS1) gene encoding NLRP3 (also known as cryopyrin). Most patients present at a young age with a variety of clinical symptoms including fevers, urticaria-like skin rash, arthropathy, and CNS inflammation. A subset of patients followed...
متن کاملPW02-034 - NLRP3 mosaicism detection in CAPS using NGS
Methods Six well-defined mutation-negative CAPS patients were included. In addition two CAPS patients that were identified before as mosaics, by a subcloning and Sanger sequencing method, were included for validation purposes. In short, barcoded whole genome fragment libraries were generated for each patient, enriched for the coding regions of 300 inflammation related genes using a custom Agile...
متن کاملLate-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism—UK Single Center Experience
Cryopyrin-associated periodic syndrome (CAPS) is caused by gain-of-function NLRP3 mutations. Recently, somatic NLRP3 mosaicism has been reported in some CAPS patients who were previously classified as "mutation-negative." We describe here the clinical and laboratory findings in eight British adult patients who presented with symptoms typical of CAPS other than an onset in mid-late adulthood. Al...
متن کاملP02-029 - CAPS or SJIA
Case Report The patient became ill when she was 3 years old. She had fever, rash and artralgia and pericarditis. After examination in hospital she was diagnosed sJIA. She took glucocorticosteroids 1 mg/kg daily per os, methylprednisolone 10 mg/kg IV, No3, and MTX 10mg/m2/week with positive results. She took that therapy during 2 years. When the dose of GC decreased she had flares (fever, rash, ...
متن کاملDescription of a case of late-onset cryopyrin-associated periodic syndrome due to low-level somatic NLRP3 mosaicism
Introduction Cryopyrin-associated periodic syndromes (CAPS) usually present in early childhood as an urticaria-like skin rash associated with an increased inflammatory response, with additional manifestations (i.e. arthropathy, AA amyloidosis or deafness) typically restricted to certain phenotypes. CAPS are caused by dominantly inherited or de novogain-of-functionNLRP3 mutations. The introducti...
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ژورنال
عنوان ژورنال: Pediatric Rheumatology
سال: 2013
ISSN: 1546-0096
DOI: 10.1186/1546-0096-11-s1-a130