Immunodeficiency in CHARGE syndrome. Issue 4 (21st November 2017)

• Record Type: Journal Article
• Authors: Mehr, Sam; Hsu, Peter; Campbell, Dianne
• Other Names: van Ravenswaaij‐Arts Conny guestEditor.; Martin Donna M. guestEditor.
• Is Part Of: American journal of medical genetics. Volume 175:Issue 4(2017)
• Page Start: 516
• Page End: 523
• Publication Date: 2017-11-21
• Subjects: CHARGE syndrome -- complete Di George -- immunodeficiency; Medical genetics -- Periodicals; 616.04205
• DOI: 10.1002/ajmg.c.31594
• Languages: English
• ISSNs: 1552-4868

Abstract

Abstract : Immunodeficiency can occur in CHARGE syndrome, with immunophenotypes including reduction in T‐cell counts, combined T‐B cell defects rarely requiring antibiotic prophylaxis or immunoglobulin replacement, and severe combined immunodeficiency, which is fatal without immune reconstitution. However, the prevalence of immunodeficiency in CHARGE syndrome remains unclear with few prospective studies. In this review, we examine the existing literature covering immunodeficiency associated with CHARGE syndrome, compare these with immunodeficiencies reported in 22q11.2 deletion syndrome (a condition that shares many phenotypic characteristics with CHARGE syndrome) and suggest future research priorities.