[WHIM syndrome].
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.
Erdos
Melinda
M
Debreceni Egyetem, Orvos- és Egészségtudományi Centrum Infektológiai és Gyermekimmunológiai Tanszék Debrecen. melinda.erdos@yahoo.com
Maródi
László
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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
D019718:Receptors, CXCR4