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Pediatric Rheumatology
Published in: Pediatric Rheumatology 1/2013

Open Access 01-11-2013 | Meeting abstract

P02-005 - Overlap of FMF and HIDS in one Arabic family

Authors: T Moussa, B Aladbe, A Aly, R Taha, H El-Shanti, B Fathalla

Published in: Pediatric Rheumatology | Special Issue 1/2013

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Excerpt

Familial Mediterranean Fever (FMF) is commonly reported in Arabs, whereas Hyper-IgD syndrome (HIDS) is rare. Moreover, the simultaneous presence of MEFV and MVK mutations segregating in the same family is exceedingly rare. We report here an Arabic family in whom a combination of complex MEFV mutations and an MVK mutation segregate producing variable clinical phenotypes. …
Literature
1.
El-Shanti H: Familial Mediterranean fever in Arabs. Lancet. 2006, 367: 1016-1024. 10.1016/S0140-6736(06)68430-4.CrossRefPubMed
2.
Granel B: Overlap syndrome between FMF and TRAPS in a patient carrying MEFV and TNFRSF1A mutations. Clin Exp Rheumatol. 2007, 25 (4 Suppl 45): S93-5.PubMed
3.
Van der Hilst JC: International HIDS Study Group. Long-term follow-up, clinical features and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome. Medicine (Baltimore). 2008, 87: 301-310. 10.1097/MD.0b013e318190cfb7.CrossRef
Metadata
Title
P02-005 - Overlap of FMF and HIDS in one Arabic family
Authors
T Moussa
B Aladbe
A Aly
R Taha
H El-Shanti
B Fathalla
Publication date
01-11-2013
Publisher
BioMed Central
Published in
Pediatric Rheumatology / Issue Special Issue 1/2013
Electronic ISSN: 1546-0096
DOI
https://doi.org/10.1186/1546-0096-11-S1-A112

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