Journal
JOURNAL OF CLINICAL IMMUNOLOGY
Volume 32, Issue 5, Pages 922-932Publisher
SPRINGER/PLENUM PUBLISHERS
DOI: 10.1007/s10875-012-9688-x
Keywords
Autoinflammatory syndromes; genetics; familial mediterranean fever; mevalonate kinase deficiency; TRAPS; NLRP3; cryopyrin; MVK; MEFV; TNFRSF1A
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Funding
- Fundacao de Amparo a Pesquisa do Estado de Sao Paulo - FAPESP [2008/58866-5, 2009/12334-5]
- Conselho Nacional de Desenvolvimento Cientifico e Tecnologico - CNPQ [300248/2008-3]
- Federico Foundation
- Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP) [08/58866-5] Funding Source: FAPESP
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To evaluate the prevalence of genetic defects in clinically suspected autoinflammatory syndromes (AIS) in a Brazilian multicenter study. The study included 102 patients with a clinical diagnosis of Cryopyrin Associated Periodic Syndromes (CAPS), TNF Receptor Associated Periodic Syndrome (TRAPS), Familial Mediterranean Fever (FMF), Mevalonate Kinase Deficiency (MKD) and Pediatric Granulomatous Arthritis (PGA). One of the five AIS-related genes (NLRP3, TNFRSF1A, MEFV, MVK and NOD2) was evaluated in each patient by direct DNA sequencing, based on the most probable clinical suspect. Clinical diagnoses of the 102 patients were: CAPS (n = 28), TRAPS (n = 31), FMF (n = 17), MKD (n = 17) and PGA (n = 9). Of them, 27/102 (26 %) had a confirmed genetic diagnosis: 6/28 (21 %) CAPS patients, 7/31 (23 %) TRAPS, 3/17 (18 %) FMF, 3/17 (18 %) MKD and 8/9 (89 %) PGA. We have found that approximately one third of the Brazilian patients with a clinical suspicion of AIS have a confirmed genetic diagnosis.
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