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Journal article

Prevalence of SAP gene defects in male patients diagnosed with common variable immunodeficiency.

Abstract:

The molecular basis of common variable immunodeficiency (CVID) is undefined, and diagnosis requires exclusion of other diseases including X-linked lymphoproliferative disease (XLP). This rare disorder of immunedysregulation presents typically after Epstein-Barr virus infection and results from defects in the SAP (SLAM associated protein) gene. SAP mutations have been found in a few patients diagnosed previously as CVID, suggesting that XLP may mimic CVID, but no large-scale analysis of CVID p...

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Publication status:
Published

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Authors


Eastwood, D More by this author
Gilmour, KC More by this author
Nistala, K More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Medicine, Experimental Medicine Division,
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Journal:
Clinical and experimental immunology
Volume:
137
Issue:
3
Pages:
584-588
Publication date:
2004-09-05
DOI:
EISSN:
1365-2249
ISSN:
0009-9104
URN:
uuid:9f5bf628-6213-4dab-b425-13e597df6836
Source identifiers:
66673
Local pid:
pubs:66673

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