title: Hyperimmunoglobulin D syndrome in childhood.
abstract: Hyperimmunoglobulinemia D and periodic fever syndrome, an autoinflammatory syndrome, is caused by mutations in the gene coding for mevalonate kinase. The disease is clinically characterized by recurrent attacks of fever accompanied by an array of inflammatory symptoms including lymphadenopathy, rash, arthritis, and gastrointestinal complaints. Most patients have their first attack in the first year of life, typically after a childhood vaccination. The frequency of attacks is highest during childhood, with a gradual decrease after adolescence. Frequent fever attacks impair quality of life and the achievement of educational milestones. Recent reports show promising results with anakinra and etanercept to treat the attacks.
authors.affiliation: Department of Internal Medicine and Infectious Diseases, University Medical Centre Utrecht, Utrecht, The Netherlands. j.c.h.vanderhilst@umcutrecht.nl
authors.forename: Jeroen C H
authors.initials: JC
authors.lastname: van der Hilst
authors.forename: Joost
authors.initials: J
authors.lastname: Frenkel
mesh_terms: D000203:Activities of Daily Living; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D000068800:Etanercept; D005334:Fever / Q000503:physiopathology; D006801:Humans; D007074:Immunoglobulin G / Q000627:therapeutic use; D007155:Immunologic Factors / Q000627:therapeutic use; D053590:Interleukin 1 Receptor Antagonist Protein / Q000627:therapeutic use; D054078:Mevalonate Kinase Deficiency / Q000188:drug therapy / Q000235:genetics / Q000473:pathology*; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000097:blood / Q000235:genetics; D011788:Quality of Life; D018124:Receptors, Tumor Necrosis Factor / Q000627:therapeutic use; D013577:Syndrome
chemical_list: D007074:Immunoglobulin G; D007155:Immunologic Factors; D053590:Interleukin 1 Receptor Antagonist Protein; D018124:Receptors, Tumor Necrosis Factor; D017853:Phosphotransferases (Alcohol Group Acceptor); C021796:mevalonate kinase; D000068800:Etanercept