Unusual and severe disease course in a child with ataxia-telangiectasia.
SourcePediatric Allergy and Immunology, 14, 4, (2003), pp. 330-333
Article / Letter to editor
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Pediatric Allergy and Immunology
SubjectUMCN 1.4: Immunotherapy, gene therapy and transplantation; UMCN 4.1: Microbial pathogenesis and host defense
Ataxia-telangiectasia (AT) is an autosomal recessive syndrome of combined immunodeficiency. Hallmarks of the disease comprise progressive cerebellar ataxia, oculocutaneous telangiectasia, cancer susceptibility and variable humoral and cellular immunodeficiency. We describe a patient with AT presenting with autoimmune haemolytic anaemia, neutropenia, hepatosplenomegaly, lymphadenopathy and hyper-IgM at the age of 6 months. At the age of 26 months she developed persistent fever, progressive lymphadenopathy and pulmonary nodular infiltrates, which were responsive to steroid therapy.
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