Case Report: A Highly Variable Clinical and Immunological Presentation of IKAROS Deficiency in a Single Family

被引:3
作者
Kuijpers, Taco W. [1 ,2 ]
Tromp, Samantha A. M. [1 ,3 ]
van Leeuwen, Ester M. M. [3 ]
de Bree, Godelieve J. [4 ]
机构
[1] Univ Amsterdam, Emma Childrens Hosp, Amsterdam Univ Med Ctr, Dept Pediat Immunol, Amsterdam, Netherlands
[2] Univ Amsterdam, Amsterdam Univ Med Ctr, Dept Blood Cell Res, Sanquin Res & Landsteiner Lab Immunol, Amsterdam, Netherlands
[3] Univ Amsterdam, Amsterdam Univ Med Ctr, Amsterdam Inst Infect & Immunity, Dept Expt Immunol, Amsterdam, Netherlands
[4] Univ Amsterdam, Amsterdam Univ Med Ctr, Inst Infect & Immun, Dept Internal Med, Amsterdam, Netherlands
来源
FRONTIERS IN IMMUNOLOGY | 2022年 / 13卷
关键词
Ikaros; IKZF1; inborn error of immunity (IEI); common variable immunodeficiency (CVID); whole exome sequencing (WES); INBORN-ERRORS; PRIMARY IMMUNODEFICIENCY;
D O I
10.3389/fimmu.2022.865838
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
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.
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页数:8
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