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Article

A Novel Homozygous Stop Mutation in IL23R Causes Mendelian Susceptibility to Mycobacterial Disease.

Journal of clinical immunology - 1 Nov 2022

Staels Frederik, Lorenzetti Flaminia, De Keukeleere Kerstin, Willemsen Mathijs, Gerbaux Margaux, Neumann Julika, Tousseyn Thomas, Pasciuto Emanuela, De Munter Paul, Bossuyt Xavier, Gijsbers Rik, Liston Adrian, Humblet-Baron Stephanie, Schrijvers Rik

Abstract excerpt

PURPOSE: Mendelian susceptibility to mycobacterial disease (MSMD) is caused by inborn errors of IFN-γ immunity. The most frequent genetic defects are found in IL12 or a subunit of its receptor. IL23R deficiency in MSMD has only been reported once, in two pediatric patients from the same kindred with isolated disseminated Bacille Calmette-Guérin disease. We evaluated the impact of a homozygous stop mutation in...

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Identifiers

PMID: 35829840
DOI: 10.1007/s10875-022-01320-7
PMCID: PMC9700586

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