title: Ataxia-telangiectasia with hyper-IgM and Wilms tumor: fatal reaction to irradiation.
abstract: Ataxia-telangiectasia is an autosomal recessive disorder caused by mutation in the ATM gene. Hallmarks of the disease comprise progressive cerebellar ataxia, oculocutaneous telangiectasiae, cancer susceptibility, and variable humoral and cellular immunodeficiency. We report a patient who, because of the pattern of her immunodeficiency, was primarily diagnosed as an autosomal recessive hyper-IgM syndrome. Only a mild cerebellar ataxia was present at the age of 7 years then she developed a Wilms tumor (nephroblastoma). Conventional radiotherapy for the malignancy led to fatal consequences. Postmortem studies confirmed diagnosis of ataxia-telangiectasia.
authors.affiliation: Department of Immunology, The Children's Memorial Health Institute, Warsaw, Poland. barbara.p@rocketmail.com
authors.forename: Barbara Maria
authors.initials: BM
authors.lastname: Pietrucha
authors.forename: Edyta
authors.initials: E
authors.lastname: Heropolitańska-Pliszka
authors.forename: Anna
authors.initials: A
authors.lastname: Wakulińska
authors.forename: Hanna
authors.initials: H
authors.lastname: Skopczyńska
authors.forename: Richard A
authors.initials: RA
authors.lastname: Gatti
authors.forename: Ewa
authors.initials: E
authors.lastname: Bernatowska
mesh_terms: D001260:Ataxia Telangiectasia / Q000150:complications* / Q000175:diagnosis*; D002524:Cerebellar Ataxia; D002675:Child, Preschool; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D053306:Hyper-IgM Immunodeficiency Syndrome / Q000209:etiology*; D011878:Radiotherapy / Q000401:mortality*; D009396:Wilms Tumor / Q000209:etiology / Q000532:radiotherapy*