Major Histocompatibility Complex Class II Deficiency in Kuwait: Clinical Manifestations, Immunological Findings and Mole
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ORIGINAL RESEARCH
Major Histocompatibility Complex Class II Deficiency in Kuwait: Clinical Manifestations, Immunological Findings and Molecular Profile Waleed Al-Herz & Osama Alsmadi & Motasem Melhem & Mike Recher & Francesco Frugoni & Luigi D. Notarangelo
Received: 24 September 2012 / Accepted: 29 October 2012 / Published online: 10 November 2012 # Springer Science+Business Media New York 2012
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 MHC class II deficiency . RFXANK gene . molecular diagnosis . consanguinity . Kuwait
Introduction Major Histocompatibility Complex (MHC) class II molecules have an important role in antigen presentation W. Al-Herz (*) Department of Pediatrics, Faculty of Medicine, Kuwait University, 24923 Safat, 13110 Kuwait, Kuwait e-mail: [email protected] W. Al-Herz Allergy & Clinical Immunology Unit, Pediatric Department, Al-Sabah Hospital, Kuwait, Kuwait
and play a pivotal part in controlling the immune system. MHC II expression is regulated at the transcriptional level by products from four different regulatory genes. Mutational defects in any of these trans-acting genes (CIITA, RFXANK, RFX5 and RFXAP) will cause a rare autosomal recessive primary combined immunodeficiency (OMIM 209920) affecting both humoral and cellular immune responses to foreign antigens, leading to recurrent and severe bacterial, fungal, viral, and protozoan infections [1-3]. Although patients with MHC-II deficiency have normal numbers of B lymphocytes and detectable number of T cells in their peripheral blood, CD4+ T cell counts are typically markedly reduced [2, 4]. Furthermore, these patients suffer from profound impairment of antigen-specific T- and B-cell responses [5]. The prevalence of this deficiency is highest in North African population where mutation in the RFXANK gene (752delG26) with a founder effect [6] is more common. MHC-II deficiency is fatal unless cured by allogeneic stem cell transplantation (HSCT) [6, 7]. The aim of this study is to describe the clinical, immunological and molecular characteristics of previously unreported 11 Kuwaiti patients who presented with MHC-II deficiency between 2004 and 2011.
Methods
O. Alsmadi : M. Melhem Dasman Genome Centre, Dasman Diabetes Institute, Kuwait, Kuwait
Patients Data
M. Recher : F. Frugoni : L. D. Notarangelo Division of Immunology and The Manton Center for Orphan Disease Research, Children’s Hospital, Harvard Medical School, Boston, MA, USA
The patients data were retrieved from the Kuwait National Primary Immunodeficiency Disorders Registry (KNPIDR), which began recruiting patients in 2004
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