title: [WHIM syndrome].
abstract: The WHIM syndrome is a rare, autosomal dominant primary immunodeficiency disorder characterized by warts, hypogammaglobulinemia, recurrent infections, and myelocathexis. The authors summarize current knowledge on molecular basis, diagnostic criteria, therapy, and clinical manifestations of WHIM syndrome. The authors propose that delayed diagnosis and treatment of children with WHIM may be due to incomplete presentation of the disease.
authors.affiliation: Debreceni Egyetem, Orvos- és Egészségtudományi Centrum Infektológiai és Gyermekimmunológiai Tanszék Debrecen. melinda.erdos@yahoo.com
authors.forename: Melinda
authors.initials: M
authors.lastname: Erdos
authors.forename: László
authors.initials: L
authors.lastname: Maródi
mesh_terms: D000361:Agammaglobulinemia / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D001424:Bacterial Infections / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D002648:Child; D005260:Female; D006801:Humans; D009503:Neutropenia / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D010375:Pedigree; D017354:Point Mutation; D011379:Prognosis; D019718:Receptors, CXCR4 / Q000235:genetics* / Q000378:metabolism; D012008:Recurrence; D017422:Sequence Analysis, DNA; D013577:Syndrome; D014860:Warts / Q000175:diagnosis / Q000235:genetics / Q000628:therapy
chemical_list: D019718:Receptors, CXCR4