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. 2019 Sep 13;10:2189. doi: 10.3389/fimmu.2019.02189

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Copyright © 2019 Lee, Lao-araya, Yang, Chan, Ma, Pei, Kui, Mao, Yang, Zhao, Trakultivakorn and Lau.

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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(A) Pedigrees of Families 1–6. (B) Mutations identified in patients with T. marneffei infections. (i) Splice site mutation in TNFSF5 (CD40L) in Patient F1; (ii) heterozygous missense mutations in STAT1 identified in Patients F2 (p.A267V), F3 (p.T288I), F4 (p.L358F), F5.1, and F5.2 (p.M390I); (iii) homozygous mutation in IFNGR1 identified in Patient F6.2 (p.V61fsX69) and his deceased elder sister (F6.1). Both parents were found to be heterozygous carriers of the mutation.