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. 2022 Apr 4;13:866582. doi: 10.3389/fimmu.2022.866582

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Copyright © 2022 Yamashita and Morio

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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Summary of patients, murine models, and in vitro studies of AIOLOS variants. Circles indicate the patients who presented with the indicated phenotypes. Each column of the circle represents each patient, sorted by the age of the patients. Pedigrees of the study patients are presented above. Two patients with AIOLOS^G159R had died at the time of the study. The phenotypes of both heterozygous (Het) and homozygous (Homo) mice were presented. EBV, Epstein–Barr virus; CLL, chronic lymphocytic leukemia; FO, follicular; MZ, marginal zone; TCR, T-cell receptor; EMSA, electrophoretic mobility shift assay; DN, dominant-negative; PC-HC, pericentromeric heterochromatin foci formation assay; LOF, loss-of-function.