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. 2019 Aug 21;10:1964. doi: 10.3389/fimmu.2019.01964

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Copyright © 2019 Bandari, Muthusamy, Bhat, Govindaraj, Rajagopalan, Dalvi, Shankar, Raja, Reddy, Madkaikar and Pandey.

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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IFNGR2 splice site mutation. (A) Depiction of IFNGR2 splice acceptor site mutation in intron 2 of IFNGR2 gene. The changes shown are homozygous in the affected siblings (B) Illustration of segregation of the splice site mutation identified in IFNGR2 gene (this study) in the affected siblings and unaffected consanguneous parents using Sanger sequencing. (C) Depiction of currently known mutations and the novel splice site mutation (this study) in the exon-intron architecture of IFNGR2 gene. The splice acceptor site mutation identified in this study is marked in red and the previously reported mutations in IFNGR2 gene are marked in black.