Jph. Drenth et al., LOCATION OF THE GENE CAUSING HYPERIMMUNOGLOBULINEMIA-D AND PERIODIC-FEVER-SYNDROME DIFFERS FROM THAT FOR FAMILIAL MEDITERRANEAN FEVER, Human genetics, 94(6), 1994, pp. 616-620
The hyperimmunoglobulinemia D and periodic fever (hyper-IgD) syndrome
is typified by recurrent febrile attacks with abdominal distress, join
t 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 resemble
s familial Mediterranean fever, one could speculate that both result f
rom mutations in the same gene. The gene causing familial Mediterranea
n fever (MEF) has been located on chromosome 16p. We have studied 10 f
amilies with 19 affected and 28 non-affected subjects. The clinical fi
ndings and IgD determinations from these families are compatible with
autosomal recessive inheritance. Using highly polymorphic markers surr
ounding the MEF gene, only negative Lod scores were obtained, whereas
haplotype analysis excluded this locus as the cause of the hyper-IgD s
yndrome. In addition, no indication for linkage was obtained with mark
ers from other candidate gene regions on chromosomes 17q and 14q.