Abstract
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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Abnormalities, Multiple / blood
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Abnormalities, Multiple / diagnosis
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Anemia, Hemolytic, Autoimmune / blood
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Anemia, Hemolytic, Autoimmune / diagnosis
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Ataxia Telangiectasia / blood
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Ataxia Telangiectasia / diagnosis*
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Biomarkers / blood
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Diagnosis, Differential
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Female
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Hepatomegaly / blood
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Hepatomegaly / diagnosis
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Humans
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Immunoglobulin A / blood
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Immunoglobulin D / blood
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Immunoglobulin E / blood
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Immunoglobulin G / blood
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Immunoglobulin M / blood
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Infant
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Lymphatic Diseases / blood
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Lymphatic Diseases / diagnosis
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Neutropenia / blood
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Neutropenia / diagnosis
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Severity of Illness Index
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Splenomegaly / blood
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Splenomegaly / diagnosis
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T-Lymphocytopenia, Idiopathic CD4-Positive / blood
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T-Lymphocytopenia, Idiopathic CD4-Positive / diagnosis
Substances
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Biomarkers
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Immunoglobulin A
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Immunoglobulin D
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Immunoglobulin G
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Immunoglobulin M
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Immunoglobulin E