Document Detail

Ataxia-telangiectasia patients presenting with hyper-IgM syndrome.
MedLine Citation:
PMID:  19224889     Owner:  NLM     Status:  MEDLINE    
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.
J G Noordzij; N M Wulffraat; A Haraldsson; I Meyts; L J van't Veer; F B L Hogervorst; A Warris; C M R Weemaes
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Publication Detail:
Type:  Journal Article     Date:  2009-02-17
Journal Detail:
Title:  Archives of disease in childhood     Volume:  94     ISSN:  1468-2044     ISO Abbreviation:  Arch. Dis. Child.     Publication Date:  2009 Jun 
Date Detail:
Created Date:  2009-05-22     Completed Date:  2009-06-25     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0372434     Medline TA:  Arch Dis Child     Country:  England    
Other Details:
Languages:  eng     Pagination:  448-9     Citation Subset:  AIM; IM    
Department of Paediatrics, Reinier de Graaf Gasthuis, Delft, The Netherlands.
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MeSH Terms
Ataxia Telangiectasia / immunology*
Child, Preschool
DNA Repair
Hyper-IgM Immunodeficiency Syndrome / diagnosis*,  immunology
Immunoglobulin G / analysis*
Lymphocyte Count
T-Lymphocytes / immunology
Reg. No./Substance:
0/Immunoglobulin G

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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