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Publication year
2009Source
Archives of Disease in Childhood, 94, 6, (2009), pp. 448-449ISSN
Publication type
Article / Letter to editor

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Organization
Paediatrics
Journal title
Archives of Disease in Childhood
Volume
vol. 94
Issue
iss. 6
Page start
p. 448
Page end
p. 449
Subject
N4i 4: Auto-immunity, transplantation and immunotherapyAbstract
Ataxia-telangiectasia (A-T) is characterised by progressive neurological abnormalities, oculocutaneous telangiectasias and immunodeficiency (decreased serum IgG subclass and/or IgA levels and lymphopenia). However, 10% of A-T patients present with decreased serum IgG and IgA with normal or raised IgM levels. As cerebellar ataxia and oculocutaneous telangiectasias are not present at very young age, these patients are often erroneously diagnosed as hyper IgM syndrome (HIGM). Eight patients with A-T, showing serum Ig levels suggestive of HIGM on first presentation, are described. All had decreased numbers of T lymphocytes, unusual in HIGM. The diagnosis A-T was confirmed by raised alpha-fetoprotein levels in all patients. To prevent mistaking A-T patients for HIGM it is proposed to add DNA repair disorders as a possible cause of HIGM.
This item appears in the following Collection(s)
- Academic publications [205116]
- Electronic publications [103350]
- Faculty of Medical Sciences [81054]
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