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

doi:10.1111/j.1365-2249.2007.03556.x

Article

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

Clinical and experimental immunology - 1 Mar 2008

Khan S, Hinks J, Shorto J, Schwarz M J, Sewell W A C

Abstract excerpt

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...

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

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