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Unusual and severe disease course in a child with ataxia‐telangiectasia
Author(s) -
Meyts Isabelle,
Weemaes Corry,
De WolfPeeters Chris,
Proesmans Marijke,
Renard Marleen,
Uyttebroeck An,
De Boeck Kris
Publication year - 2003
Publication title -
pediatric allergy and immunology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.269
H-Index - 89
eISSN - 1399-3038
pISSN - 0905-6157
DOI - 10.1034/j.1399-3038.2003.00037.x
Subject(s) - medicine , hepatosplenomegaly , ataxia telangiectasia , immunodeficiency , lymphoma , immunology , neutropenia , telangiectasia , dermatology , disease , pathology , pediatrics , chemotherapy , dna , genetics , immune system , biology , dna damage
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.