Some cases of common variable immunodeficiency may be due to a mutation in the SBDS gene of Shwachman-Diamond syndrome

Clinical and Experimental Immunology
S KhanW A C Sewell

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.

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Citations

Jun 18, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Deborah Krakow, David L Rimoin
May 27, 2015·Pediatric Blood & Cancer·Angela ScottAkiko Shimamura
Nov 11, 2010·Clinical and Experimental Immunology·S KhanA Huissoon
Jul 31, 2013·British Journal of Haematology·Ken MatsuiLigia A Pinto
Jan 28, 2016·Annals of Pediatric Endocrinology & Metabolism·Sung Yoon Cho, Dong-Kyu Jin
Jan 29, 2020·Clinical and Experimental Immunology·S Khan
Aug 30, 2008·Journal of Clinical Pathology·R Herriot, W A C Sewell

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