Unusual and severe disease course in a child with ataxia‐telangiectasia

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 presenti...

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Bibliographic Details
Published in:Pediatric allergy and immunology 2003-08, Vol.14 (4), p.330-333
Main Authors: Meyts, Isabelle, Weemaes, Corry, De Wolf‐Peeters, Chris, Proesmans, Marijke, Renard, Marleen, Uyttebroeck, An, De Boeck, Kris
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - blood
Abnormalities, Multiple - diagnosis
Anemia, Hemolytic, Autoimmune - blood
Anemia, Hemolytic, Autoimmune - diagnosis
Ataxia Telangiectasia - blood
Ataxia Telangiectasia - diagnosis
ataxia‐telangiectasia
Biological and medical sciences
Biomarkers - blood
Diagnosis, Differential
Female
Fundamental and applied biological sciences. Psychology
Fundamental immunology
General aspects
Hepatomegaly - blood
Hepatomegaly - diagnosis
Humans
hyper‐IgM syndrome
immune deficiency
Immunoglobulin A - blood
Immunoglobulin D - blood
Immunoglobulin E - blood
Immunoglobulin G - blood
Immunoglobulin M - blood
Infant
Lymphatic Diseases - blood
Lymphatic Diseases - diagnosis
Medical sciences
Neutropenia - blood
Neutropenia - diagnosis
Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis
Severity of Illness Index
Splenomegaly - blood
Splenomegaly - diagnosis
T-Lymphocytopenia, Idiopathic CD4-Positive - blood
T-Lymphocytopenia, Idiopathic CD4-Positive - diagnosis
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Description
Summary: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.
ISSN:0905-6157
1399-3038
DOI:10.1034/j.1399-3038.2003.00037.x