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.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Kuwait University, 24923 Safat, 13110, Kuwait, Kuwait. wemh@hotmail.com
authors.forename: Waleed
authors.initials: W
authors.lastname: Al-Herz
authors.forename: Osama
authors.initials: O
authors.lastname: Alsmadi
authors.forename: Motasem
authors.initials: M
authors.lastname: Melhem
authors.forename: Mike
authors.initials: M
authors.lastname: Recher
authors.forename: Francesco
authors.initials: F
authors.lastname: Frugoni
authors.forename: Luigi D
authors.initials: LD
authors.lastname: Notarangelo
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D004268:DNA-Binding Proteins; D005260:Female; D023061:Gene Order; D018380:Hematopoietic Stem Cell Transplantation; D000949:Histocompatibility Antigens Class II / Q000235:genetics* / Q000276:immunology; D006801:Humans; D016756:Immunoglobulins, Intravenous; D007730:Kuwait / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012042:Registries; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics* / Q000628:therapy; D014157:Transcription Factors / Q000235:genetics; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D004268:DNA-Binding Proteins; D000949:Histocompatibility Antigens Class II; D016756:Immunoglobulins, Intravenous; C117892:RFXANK protein, human; D014157:Transcription Factors