We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Case Report: A Highly Variable Clinical and Immunological Presentation of IKAROS Deficiency in a Single Family.
- Authors
Kuijpers, Taco W.; Tromp, Samantha A. M.; van Leeuwen, Ester M. M.; de Bree, Godelieve J.
- Abstract
Here we describe a novel mutation in the IKZF gene encoding IKAROS, as the cause of common variable immunodeficiency (CVID). The identification of the same defect in the IKZF gene with manifestations of asymptomatic selective IgA deficiency and chronic ITP in the father and her younger brother, respectively, demonstrates the large variability of this genetic defect in one single family, while living in the same environment with a relatively similar genetic background. As discussed, clinical penetrance of the molecular defects identified by mutations in IKZF and other common gene defects in CVID in familial immune-related abnormalities makes genetic testing a necessary step for diagnosis, management, and counseling, as part of the routine immunological workup.
- Subjects
SYMPTOMS; COMMON variable immunodeficiency; GENETIC testing; GENETIC variation
- Publication
Frontiers in Immunology, 2022, Vol 13, p1
- ISSN
1664-3224
- Publication type
Article
- DOI
10.3389/fimmu.2022.865838