Hyperimmunoglobulinemia D syndrome in an Arab child.
Hyperimmunoglobulinemia D syndrome (HIDS) is newly recognized and resembles familial Mediterranean fever (FMF). It is inherited as an autosomal recessive trait. Mutation of the gene coding for mevalonate kinase is responsible for the disease. The gene is located at chromosome 12q24. The patients initially described were of Dutch ancestry. Other cases from Turkey and Armenia were reported. The case we present is the first from Arab countries to be registered in the International HIDS Registry and to our knowledge the first to be reported.
Hammoudeh
Mohammed
M
D002648:Child; D004247:DNA / Q000032:analysis; D003937:Diagnosis, Differential; D010505:Familial Mediterranean Fever / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D006942:Hypergammaglobulinemia / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D007072:Immunoglobulin D / Q000097:blood; D008297:Male; D008877:Middle East; D009154:Mutation / Q000235:genetics; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000097:blood / Q000235:genetics; D012008:Recurrence; D012189:Retrospective Studies; D017422:Sequence Analysis, DNA
D007072:Immunoglobulin D; D004247:DNA; D017853:Phosphotransferases (Alcohol Group Acceptor); C021796:mevalonate kinase