Location of the gene causing hyperimmunoglobulinemia D and periodic fever syndrome differs from that for familial Mediterranean fever. International Hyper-IgD Study Group.
The hyperimmunoglobulinemia D and periodic fever (hyper-IgD) syndrome is typified by recurrent febrile attacks with abdominal distress, joint involvement (arthralgias/arthritis), headache, skin lesions, and an elevated serum IgD level (> 100 U/ml). This familial disorder has been diagnosed in 56 subjects worldwide. As the hyper-IgD syndrome resembles familial Mediterranean fever, one could speculate that both result from mutations in the same gene. The gene causing familial Mediterranean fever (MEF) has been located on chromosome 16p. We have studied 10 families with 19 affected and 28 non-affected subjects. The clinical findings and IgD determinations from these families are compatible with autosomal recessive inheritance. Using highly polymorphic markers surrounding the MEF gene, only negative Lod scores were obtained, whereas haplotype analysis excluded this locus as the cause of the hyper-IgD syndrome. In addition, no indication for linkage was obtained with markers from other candidate gene regions on chromosomes 17q and 14q.
Drenth
J P
JP
Department of Medicine, University Hospital St Radboud, Nijmegen, The Netherlands.
Mariman
E C
EC
Van der Velde-Visser
S D
SD
Ropers
H H
HH
Van der Meer
J W
JW
D002874:Chromosome Mapping; D004247:DNA / Q000032:analysis; D010505:Familial Mediterranean Fever / Q000235:genetics*; D005260:Female; D005334:Fever / Q000235:genetics*; D008040:Genetic Linkage; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D006942:Hypergammaglobulinemia / Q000235:genetics*; D007072:Immunoglobulin D / Q000235:genetics*; D008297:Male; D010375:Pedigree; D013577:Syndrome
D005819:Genetic Markers; D007072:Immunoglobulin D; D004247:DNA