title: Hyperimmunoglobulinaemia D syndrome: a rare cause of prolonged fever and treatment with anti-interleukin 1 agent.
abstract: Hyperimmunoglobulinaemia D syndrome (HIDS) is an autosomal recessive, autoinflammatory disease that is characterised with intermittent febrile episodes, cervical lymphadenopathy, rashes, arthritis and gastrointestinal symptoms associated with synovial or serosal inflammation. HIDS is caused by mutations in the gene encoding mevalonate kinase enzyme. The febrile attacks usually start in early childhood and triggered by stress or vaccinations. We report a case of 16-month-old boy who had episodes of recurrent fever accompanied by maculopapular rash and lymphadenopathy. He was diagnosed as HIDS and he had heterozygote mutation of mevalonate kinase gene.
authors.affiliation: Department of Pediatric Infectious Diseases, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey.
authors.forename: Deniz
authors.initials: D
authors.lastname: Aygun
authors.affiliation: Department of Pediatric Rheumatology, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey.
authors.forename: Sezgin
authors.initials: S
authors.lastname: Sahin
authors.affiliation: Department of Pediatric Infectious Diseases, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey.
authors.forename: Haluk
authors.initials: H
authors.lastname: Cokugras
authors.affiliation: Department of Pediatric Rheumatology, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey.
authors.forename: Ozgur
authors.initials: O
authors.lastname: Kasapcopur
mesh_terms: D003937:Diagnosis, Differential; D005334:Fever / Q000209:etiology*; D006801:Humans; D006942:Hypergammaglobulinemia / Q000175:diagnosis* / Q000235:genetics; D007072:Immunoglobulin D / Q000097:blood*; D007223:Infant; D053590:Interleukin 1 Receptor Antagonist Protein / Q000008:administration & dosage* / Q000627:therapeutic use; D008297:Male; D009154:Mutation; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics; D013256:Steroids / Q000008:administration & dosage* / Q000627:therapeutic use; D016896:Treatment Outcome
chemical_list: D007072:Immunoglobulin D; D053590:Interleukin 1 Receptor Antagonist Protein; D013256:Steroids; D017853:Phosphotransferases (Alcohol Group Acceptor); C021796:mevalonate kinase