title: Type III bare lymphocyte syndrome associated with a novel RFXAP mutation: a case report.
abstract: Type III bare lymphocyte syndrome (BLS) is a severe combined immunodeficiency disease caused by the absence of MHC Class II expression associated with low expression of class I molecules. Here, we report a case with type III BLS who lacked RFXAP (Regulatory factor X-associated protein) expression as a result from a novel mutation introducing a premature stopcodon in DE-region at amino acid 73.
authors.affiliation: Department of Pediatric Allergy and Immunology, Konya University Meram Medical Faculty, Konya, Turkey. gokturkbahar@yahoo.com
authors.forename: B
authors.initials: B
authors.lastname: Gokturk
authors.forename: H
authors.initials: H
authors.lastname: Artac
authors.forename: M J
authors.initials: MJ
authors.lastname: van Eggermond
authors.forename: P
authors.initials: P
authors.lastname: van den Elsen
authors.forename: İ
authors.initials: İ
authors.lastname: Reisli
mesh_terms: D015496:CD4-Positive T-Lymphocytes / Q000378:metabolism; D018414:CD8-Positive T-Lymphocytes / Q000378:metabolism; D018389:Codon, Nonsense / Q000235:genetics; D005260:Female; D056726:Genetic Association Studies; D006720:Homozygote; D006801:Humans; D007223:Infant; D018655:Lymphocyte Count; D009154:Mutation; D016511:Severe Combined Immunodeficiency / Q000235:genetics* / Q000378:metabolism; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism
chemical_list: D018389:Codon, Nonsense; C413004:RFXAP protein, human; D014157:Transcription Factors