Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations.

doi:10.1016/j.jaci.2017.03.049

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Article

Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations.

The Journal of allergy and clinical immunology - 1 Feb 2018

Leiding Jennifer W, Okada Satoshi, Hagin David, Abinun Mario, Shcherbina Anna, Balashov Dmitry N, Kim Vy H D, Ovadia Adi, Guthery Stephen L, Pulsipher Michael, Lilic Desa, Devlin Lisa A, Christie Sharon, Depner Mark, Fuchs Sebastian, van Royen-Kerkhof Annet, Lindemans Caroline, Petrovic Aleksandra, Sullivan Kathleen E, Bunin Nancy, Kilic Sara Sebnem, Arpaci Fikret, Calle-Martin Oscar de la, Martinez-Martinez Laura, Aldave Juan Carlos, Kobayashi Masao, Ohkawa Teppei, Imai Kohsuke, Iguchi Akihiro, Roifman Chaim M, Gennery Andrew R, Slatter Mary, Ochs Hans D, Morio Tomohiro, Torgerson Troy R

Abstract excerpt

BACKGROUND: Gain-of-function (GOF) mutations in signal transducer and activator of transcription 1 (STAT1) cause susceptibility to a range of infections, autoimmunity, immune dysregulation, and combined immunodeficiency. Disease manifestations can be mild or severe and life-threatening. Hematopoietic stem cell transplantation (HSCT) has been used in some patients with more severe symptoms to treat and cure the...

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Identifiers

PMID: 28601685
DOI: 10.1016/j.jaci.2017.03.049
PMCID: PMC7802430

Genes

STAT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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