Abstract | BACKGROUND: PATIENTS AND METHODS: All variants in MEFV, TNFRSF1A, and MVK were analyzed in 20 patients with PFAPA. PFAPA were diagnosed by previous published criteria. The findings of all analyses in PFAPA patients were compared with those of unaffected normal subjects (n=62). RESULTS: In the 13 children of 20 with PFAPA, the heterozygous variants of MEFV (5 patients: E148Q-L110P, 2 patients: E148Q, 1 patient: E148Q-L110P/E148Q, 1 patient: E148Q-P369S-R408Q-E84K, 1 patient: E148Q-L110P-P369S-A408G, 1 patient: R202Q, 1 patient: P115R) were found. No variants belonging to TNFRSF1A or MVK were detected in children with PFAPA. The frequency of the E148Q-L110P variants in children with PFAPA was significantly higher than that observed in unaffected normal subjects (7/20 versus 8/62). The duration of the episodes of illness in PFAPA children with MEFV variants was shorter than that of patients without variants. CONCLUSION: Genes involved in the development and progression of MEFV may affect the incidence and the phenotype of PFAPA in children.
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Authors | Shoichiro Taniuchi, Ryuta Nishikomori, Anna Iharada, Shoji Tuji, Toshio Heike, Kazunari Kaneko |
Journal | The open rheumatology journal
(Open Rheumatol J)
Vol. 7
Pg. 22-5
( 2013)
ISSN: 1874-3129 [Print] United Arab Emirates |
PMID | 23847694
(Publication Type: Journal Article)
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