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Article

Pulmonary Aspergillosis and Low HIES Score in a Family with STAT3 N-Terminal Domain Mutation.

Journal of clinical immunology - 10 Feb 2025

Lima de Souza Suiane, Asano Takaki, Glumoff Virpi, Keskitalo Salla, Pikkarainen Keela, Martelius Timi, Kaustio Meri, Saarela Janna, Kuismin Outi, Lappi-Blanco Elisa, Jartti Airi, Yannopoulos Fredrik, Tiitto Leena, Seppänen Mikko R J, Boisson Bertrand, Casanova Jean-Laurent, Varjosalo Markku, Hautala Timo, Chen Zhi

Abstract excerpt

Signal transducer and activator of transcription 3 (STAT3) plays a key role in leukocytic and non-leukocytic cells. Germ line mutations in STAT3, which are mainly found in the SH2, DNA binding and transactivation domains, can be loss- or gain-of-function (LOF and GOF). STAT3 N-terminal domain (NTD) mutations are rare, and their biological effects remain incompletely understood. We explored the significance of...

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Source

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Identifiers

PMID: 39928202
DOI: 10.1007/s10875-025-01867-1
PMCID: PMC11811237

Genes

STAT3

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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