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Article

Multiple reversions of an IL2RG mutation restore T cell function in an X-linked severe combined immunodeficiency patient.

Journal of clinical immunology - 1 Aug 2012

Kawai Tomoki, Saito Megumu, Nishikomori Ryuta, Yasumi Takahiro, Izawa Kazushi, Murakami Tomohiko, Okamoto Shigefumi, Mori Yasuko, Nakagawa Noriko, Imai Kohsuke, Nonoyama Shigeaki, Wada Taizo, Yachie Akihiro, Ohmori Katsuyuki, Nakahata Tatsutoshi, Heike Toshio

Abstract excerpt

Reversion mosaicism is increasingly being reported in primary immunodeficiency diseases, but there have been few cases with clinically improved immune function. Here, a case is reported of X-linked severe combined immunodeficiency (SCID-X1) with multiple somatic reversions in T cells, which restored sufficient cell-mediated immunity to overcome viral infection. Lineage-specific analysis revealed multiple...

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PMID: 22460439
DOI: 10.1007/s10875-012-9684-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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