Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease.

doi:10.1002/humu.22113

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease.

Human mutation - 1 Sept 2012

Tsumura Miyuki, Okada Satoshi, Sakai Hidemasa, Yasunaga Shin'ichiro, Ohtsubo Motoaki, Murata Takuji, Obata Hideto, Yasumi Takahiro, Kong Xiao-Fei, Abhyankar Avinash, Heike Toshio, Nakahata Tatsutoshi, Nishikomori Ryuta, Al-Muhsen Saleh, Boisson-Dupuis Stéphanie, Casanova Jean-Laurent, Alzahrani Mofareh, Shehri Mohammed Al, Elghazali Geyhad, Takihara Yoshihiro, Kobayashi Masao

Abstract excerpt

Patients carrying two loss-of-function (or hypomorphic) alleles of STAT1 are vulnerable to intracellular bacterial and viral diseases. Heterozygosity for loss-of-function dominant-negative mutations in STAT1 is responsible for autosomal dominant (AD) Mendelian susceptibility to mycobacterial disease (MSMD), whereas heterozygosity for gain-of-function loss-of-dephosphorylation mutations causes AD chronic...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Active Transport, Cell Nucleus

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to BCG Vaccine

Share to Interleukins

Share to Mycobacterium bovis

Share to src Homology Domains

Share to STAT1 Transcription Factor

Share to Tuberculosis

Share to Tyrosine

Source

Open in PubMed Open full text

Identifiers

PMID: 22573496
DOI: 10.1002/humu.22113
PMCID: PMC3668973

Genes

STAT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease.PMID 22573496Read ↗

Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis.Semantic proximity Read ↗

A heterozygous dominant-negative mutation in the coiled-coil domain of STAT1 is the cause of autosomal-dominant Mendelian susceptibility to mycobacterial diseases.Semantic proximity Read ↗

Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease.Semantic proximity Read ↗

A novel STAT1 mutation associated with disseminated mycobacterial disease.Semantic proximity Read ↗

Genetic and Functional Identifying of Novel STAT1 Loss-of-Function Mutations in Patients with Diverse Clinical Phenotypes.Semantic proximity Read ↗

Genetic and Functional Identifying of Novel Autosomal Dominant STAT1 Loss-of-function Mutations in Patients with Diverse Clinical PhenotypesSemantic proximity Read ↗

A novel STAT1 loss-of-function mutation associated with Mendelian susceptibility to mycobacterial disease.Semantic proximity Read ↗

Novel STAT1 alleles in a patient with impaired resistance to mycobacteria.Semantic proximity Read ↗

Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy.Semantic proximity Read ↗

Gain-of-function human <i>STAT1</i> mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasisSemantic proximity Read ↗

Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes.Semantic proximity Read ↗

Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.