Article
Immunodeficiency in CHARGE syndrome.
American journal of medical genetics. Part C, Seminars in medical genetics - 1 Dec 2017
Mehr Sam, Hsu Peter, Campbell Dianne
Abstract excerpt
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...
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