Case Report: A Highly Variable Clinical and Immunological Presentation of IKAROS Deficiency in a Single Family.
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SUBMITTER: Kuijpers TW
PROVIDER: S-EPMC9036438 | biostudies-literature | 2022
REPOSITORIES: biostudies-literature
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Case Report: A Highly Variable Clinical and Immunological Presentation of IKAROS Deficiency in a Single Family.
Kuijpers Taco W TW Tromp Samantha A M SAM van Leeuwen Ester M M EMM de Bree Godelieve J GJ
Frontiers in immunology 20220411
Here we describe a novel mutation in the <i>IKZF</i> gene encoding IKAROS, as the cause of common variable immunodeficiency (CVID). The identification of the same defect in the <i>IKZF</i> 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, ...[more]
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