Periodic fever in children with hyperimmunoglobulinemia D and mevalonate kinase mutations.
Hyperimmunoglobulinemia D syndrome (HIDS) is one cause of periodic fevers in children. HIDS is associated with mutations in the mevalonate kinases gene on chromosome 12. Most cases of HIDS have been reported from the Netherlands and surrounding European countries. It is likely that HIDS is underdiagnosed in the United States.
Grose
Charles
C
Childrens Hospital of Iowa, University of Iowa Iowa City, IA, USA.
D002648:Child; D010505:Familial Mediterranean Fever / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D006801:Humans; D006942:Hypergammaglobulinemia / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D007072:Immunoglobulin D / Q000097:blood; D007223:Infant; D008297:Male; D009154:Mutation; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*
D007072:Immunoglobulin D; D017853:Phosphotransferases (Alcohol Group Acceptor); C021796:mevalonate kinase