title: Hyperimmunoglobulinaemia D syndrome in India: report of two siblings with a novel mutation.
authors.forename: A
authors.initials: A
authors.lastname: Lawrence
authors.forename: F
authors.initials: F
authors.lastname: Hol
authors.forename: A
authors.initials: A
authors.lastname: Aggarwal
authors.forename: J P H
authors.initials: JP
authors.lastname: Drenth
mesh_terms: D000293:Adolescent; D002648:Child; D010505:Familial Mediterranean Fever / Q000235:genetics*; D005260:Female; D006801:Humans; D006942:Hypergammaglobulinemia / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D035781:Siblings; D013577:Syndrome
chemical_list: D017853:Phosphotransferases (Alcohol Group Acceptor); C021796:mevalonate kinase