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. 2019 Apr 16;10:568. doi: 10.3389/fimmu.2019.00568

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Copyright © 2019 Eskandarian, Fliegauf, Bulashevska, Proietti, Hague, Smulski, Schubert, Warnatz and Grimbacher.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Autosomal dominant inheritance of IKAROS heterozygous mutations in CVID families of a cohort of 650 individuals. (A) Pedigrees of families A–I. Circles, female; squares, male; black filled symbols, affected individual; gray filled symbols; individual with hypogammaglobulinemia without CVID-related symptoms, open symbol; unaffected; slash, diseased. (B) Schematic presentation of the structure of human IKAROS. The N-terminal DNA binding domain composed of four zinc finger motifs (yellow boxes, ZF1–ZF4), the central activation/repression domain (green) and the C-terminal dimerization domain (ZF5–ZF6). Exon borders and amino acid positions are indicated. Dotted lines in the upper part indicate heterozygous variants identified in this study. Lower parts shows previously published IKZF1 mutations (16, 34–38).