New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.

doi:10.1136/jmedgenet-2013-101570

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Article

New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.

Journal of medical genetics - 1 Sept 2013

Soltész Beáta, Tóth Beáta, Shabashova Nadejda, Bondarenko Anastasia, Okada Satoshi, Cypowyj Sophie, Abhyankar Avinash, Csorba Gabriella, Taskó Szilvia, Sarkadi Adrien Katalin, Méhes Leonóra, Rozsíval Pavel, Neumann David, Chernyshova Liudmyla, Tulassay Zsolt, Puel Anne, Casanova Jean-Laurent, Sediva Anna, Litzman Jiri, Maródi László

Abstract excerpt

BACKGROUND: Chronic mucocutaneous candidiasis disease (CMCD) may result from various inborn errors of interleukin (IL)-17-mediated immunity. Twelve of the 13 causal mutations described to date affect the coiled-coil domain (CCD) of STAT1. Several mutations, including R274W in particular, are recurrent, but the underlying mechanism is unclear. OBJECTIVE: To investigate and describe nine patients with CMCD in...

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Identifiers

PMID: 23709754
DOI: 10.1136/jmedgenet-2013-101570
PMCID: PMC3756505

Genes

STAT1

Variants

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