Journal
JOURNAL OF CLINICAL IMMUNOLOGY
Volume 33, Issue 3, Pages 513-519Publisher
SPRINGER/PLENUM PUBLISHERS
DOI: 10.1007/s10875-012-9831-8
Keywords
MHC class II deficiency; RFXANK gene; molecular diagnosis; consanguinity; Kuwait
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Funding
- Swiss National Science Foundation [PASMP3-127678]
- Kuwait Foundation for Advancement of Sciences [2010-1302-05]
- Swiss National Science Foundation (SNF) [PASMP3-127678] Funding Source: Swiss National Science Foundation (SNF)
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Major Histocompatibility Complex (MHC) class II deficiency is a combined primary immunodeficiency disease that leads to overwhelming and recurrent infections. It was found to account for 19 % of combined immune deficiency cases in the National Primary Immunodeficiency Disorders Registry in Kuwait, a country with high prevalence of consanguinity. We present the clinical, immunologic and molecular features of 11 Kuwaiti patients who presented with MHC class II deficiency between 2004 and 2011.
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