Spectrum of immunodeficiencies in jacobsen syndrome

Jacobsen syndrome (JS) is a rare contiguous gene deletion syndrome associated with a distal deletion of chromosome 11q. Immune deficiency in JS has not been well-established but usually involves antibody defects. Here we report 2 cases of Jacobsen syndrome with combined T and B cell defects presenting at different ages.
Source: Annals of Allergy, Asthma and Immunology - Category: Allergy & Immunology Authors: Tags: M225 Source Type: research