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

被引：27

作者：

Meyts, I

Weemaes, C

De Wolf-Peeters, C

Proesmans, M

Renard, M

Uyttebroeck, A

De Boeck, K

机构：

[1] Univ Hosp Gasthuisberg, Dept Pediat, B-3000 Louvain, Belgium

[2] Univ Nijmegen Hosp, Dept Pediat, NL-6500 HB Nijmegen, Netherlands

[3] Katholieke Univ Leuven, Fac Med, Dept Pathol, B-3000 Louvain, Belgium

来源：

PEDIATRIC ALLERGY AND IMMUNOLOGY | 2003年 / 14卷 / 04期

关键词：

ataxia-telangiectasia; hyper-IgM syndrome; immune deficiency;

D O I：

10.1034/j.1399-3038.2003.00037.x

中图分类号：

R392 [医学免疫学];

学科分类号：

100102 ;

摘要：

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.

引用

页码：330 / 333

页数：4

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