Impaired natural killer cell functions in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations.

doi:10.1016/j.jaci.2016.10.051

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Article

Impaired natural killer cell functions in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations.

The Journal of allergy and clinical immunology - 1 Aug 2017

Tabellini Giovanna, Vairo Donatella, Scomodon Omar, Tamassia Nicola, Ferraro Rosalba Monica, Patrizi Ornella, Gasperini Sara, Soresina Annarosa, Giardino Giuliana, Pignata Claudio, Lougaris Vassilios, Plebani Alessandro, Dotta Laura, Cassatella Marco A, Parolini Silvia, Badolato Raffaele

Abstract excerpt

BACKGROUND: Gain-of-function (GOF) mutations affecting the coiled-coil domain or the DNA-binding domain of signal transducer and activator of transcription 1 (STAT1) cause chronic mucocutaneous candidiasis disease. This condition is characterized by fungal and bacterial infections caused by impaired generation of TH17 cells; meanwhile, some patients with chronic mucocutaneous candidiasis disease might also have...

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PMID: 28069426
DOI: 10.1016/j.jaci.2016.10.051

Genes

STAT1

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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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