@article{93a3b498131144bdb8fecd68ce9669c9,
title = "Major histocompatibility complex class II deficiency in Kuwait: Clinical manifestations, immunological findings and molecular profile",
abstract = "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.",
keywords = "Consanguinity, Kuwait, MHC class II deficiency, Molecular diagnosis, RFXANK gene",
author = "Waleed Al-Herz and Osama Alsmadi and Motasem Melhem and Mike Recher and Francesco Frugoni and Notarangelo, \{Luigi D.\}",
note = "Funding Information: Acknowledgments We thank the patients and their families for their participation in this study. We are grateful to all health care providers who helped in managing these patients. We also thank Dr. Jean Villard from Geneva University Hospital for his support. Special thanks to all personnel working at the Immunology Laboratory, Department of Microbiology, Faculty of Medicine in Kuwait for their participation in the diagnosis of the patients. We also thank the Dasman Diabetes Institute in Kuwait for their support in doing the mutation analysis. Mike Recher was supported by the Swiss National Science Foundation (Grant Nr.:PASMP3-127678). The project was supported by a grant from the Kuwait Foundation for Advancement of Sciences (2010-1302-05).",
year = "2013",
month = apr,
doi = "10.1007/s10875-012-9831-8",
language = "English",
volume = "33",
pages = "513--519",
journal = "Journal of Clinical Immunology",
issn = "0271-9142",
publisher = "Springer",
number = "3",
}