Major histocompatibility complex class II deficiency in Kuwait: clinical manifestations, immunological findings and molecular profile

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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.


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References

  1.  
    1. J Allergy Clin Immunol. 2003 Nov;112(5):973-80 - PubMed
  2.  
    1. Blood. 2011 Nov 10;118(19):5108-18 - PubMed
  3.  
    1. Int Arch Allergy Immunol. 2011;154(1):76-80 - PubMed
  4.  
    1. Br J Haematol. 2006 Sep;134(5):510-6 - PubMed
  5.  
    1. Arch Dis Child. 2000 Oct;83(4):356-9 - PubMed
  6.  
    1. Immunity. 2003 Apr;18(4):453-7 - PubMed
  7.  
    1. Immunol Allergy Clin North Am. 2010 May;30(2):173-8 - PubMed
  8.  
    1. News Physiol Sci. 2004 Jun;19:154-8 - PubMed
  9.  
    1. J Allergy Clin Immunol. 2010 Sep;126(3):602-10.e1-11 - PubMed
  10.  
    1. Eur J Pediatr. 2010 Sep;169(9):1069-74 - PubMed
  11.  
    1. Biol Blood Marrow Transplant. 2010 Jun;16(6):818-23 - PubMed
  12.  
    1. Clin Immunol. 2012 Jun;143(3):266-72 - PubMed
  13.  
    1. Cell. 2002 Apr;109 Suppl:S21-33 - PubMed