title: Idiopathic thrombocytopenic purpura in a boy with ataxia telangiectasia on immunoglobulin replacement therapy.
abstract: Ataxia telangiectasia (AT) is an inherited cerebellar degeneration syndrome often associated with immune deficiency, notably, lymphopenia, hypogammaglobulinemia, and cellular immune dysfunction. Although autoimmunity is a common feature of many congenital and acquired immune deficiencies, it has not generally been thought to be associated with AT. We report a 7-year-old boy with AT who developed acute idiopathic thrombocytopenic purpura while on subcutaneous immunoglobulin replacement therapy for hypogammaglobulinemia. He responded promptly to high-dose intravenous immunoglobulin. This case reinforces the notion that one must be observant for autoimmune hematologic conditions in any child with qualitative or quantitative deficiencies in cellular immunity.
authors.affiliation: Pediatrics and Internal Medicine, University of North Carolina, Raleigh, NC, USA.
authors.forename: Jonathon
authors.initials: J
authors.lastname: Heath
authors.forename: Frederick D
authors.initials: FD
authors.lastname: Goldman
mesh_terms: D000361:Agammaglobulinemia / Q000188:drug therapy; D001260:Ataxia Telangiectasia / Q000150:complications* / Q000188:drug therapy; D015551:Autoimmunity; D002648:Child; D006801:Humans; D007116:Immunization, Passive / Q000379:methods*; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use; D008297:Male; D016553:Purpura, Thrombocytopenic, Idiopathic / Q000209:etiology*
chemical_list: D016756:Immunoglobulins, Intravenous