title: Some cases of common variable immunodeficiency may be due to a mutation in the SBDS gene of Shwachman-Diamond syndrome.
abstract: Known genetic defects currently account for only a small proportion of patients meeting criteria for 'probable' or 'possible' common variable immunodeficiency (CVID). A 59-year-old male with a 12-year history of CVID on intravenous immunoglobulin (IVIG) is presented who developed bronchiectasis, cytopenias and malabsorption that are recognized complications of CVID. Work-up for his malabsorption suggested the possibility of Shwachman-Diamond syndrome, confirmed by mutation testing. With the identification of the molecular defect in Shwachman-Diamond syndrome (SDS), it is becoming clear that not all SDS patients have the prominent features of neutropenia or pancreatic malabsorption. A meta-analysis of published immunological defects in SDS suggests that four of 14 hypogammaglobulinaemic SDS patients meet criteria for 'possible' CVID. Mutations in the SBDS gene may therefore be the fifth identified molecular defect in CVID.
authors.affiliation: Path Links Immunology, Scunthorpe General Hospital, Scunthorpe, N. Lincs, UK.
authors.forename: S
authors.initials: S
authors.lastname: Khan
authors.forename: J
authors.initials: J
authors.lastname: Hinks
authors.forename: J
authors.initials: J
authors.lastname: Shorto
authors.forename: M J
authors.initials: MJ
authors.lastname: Schwarz
authors.forename: W A C
authors.initials: WA
authors.lastname: Sewell
mesh_terms: D000293:Adolescent; D000328:Adult; D001987:Bronchiectasis / Q000000981:diagnostic imaging / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D017074:Common Variable Immunodeficiency / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D010188:Exocrine Pancreatic Insufficiency / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D007970:Leukopenia / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011506:Proteins / Q000235:genetics*; D011859:Radiography; D013577:Syndrome
chemical_list: D011506:Proteins; C470521:SBDS protein, human