title: MHC class 2 deficiency and X-linked agammaglobulinaemia in a consanguineous extended family.
abstract: Manifestations of immunodeficiency within the same family are presumed to be the same disease. We report a consanguineous extended family where four patients have immunodeficiency, three have X-linked agammaglobulinaemia and one has major histocompatibility complex class 2 deficiency. Within one family, two rare genetic diseases with similar clinical manifestations can occur.
authors.affiliation: Pediatric Immunology Clinic, Soroka University Medical Center, Beer Sheva, Israel. broides@bgu.ac.il
authors.forename: A
authors.initials: A
authors.lastname: Broides
authors.forename: G
authors.initials: G
authors.lastname: Shubinsky
authors.forename: R
authors.initials: R
authors.lastname: Parvari
authors.forename: B
authors.initials: B
authors.lastname: Grimbacher
authors.forename: R
authors.initials: R
authors.lastname: Somech
authors.forename: B Z
authors.initials: BZ
authors.lastname: Garty
authors.forename: J
authors.initials: J
authors.lastname: Levy
mesh_terms: D000077329:Agammaglobulinaemia Tyrosine Kinase; D000361:Agammaglobulinemia / Q000188:drug therapy / Q000235:genetics* / Q000276:immunology; D003241:Consanguinity; D005091:Exons / Q000235:genetics / Q000276:immunology; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000188:drug therapy / Q000235:genetics* / Q000276:immunology; D000949:Histocompatibility Antigens Class II / Q000235:genetics* / Q000276:immunology; D006801:Humans; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use; D007223:Infant; D007438:Introns / Q000235:genetics / Q000276:immunology; D008297:Male; D010375:Pedigree; D011401:Promoter Regions, Genetic; D011505:Protein-Tyrosine Kinases / Q000235:genetics* / Q000276:immunology
chemical_list: D000949:Histocompatibility Antigens Class II; D016756:Immunoglobulins, Intravenous; D011505:Protein-Tyrosine Kinases; D000077329:Agammaglobulinaemia Tyrosine Kinase