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Article

Disseminated Mycobacterium genavense infection in a patient with a novel partial interleukin-12/23 receptor β1 deficiency.

Clinical immunology (Orlando, Fla.) - 1 Aug 2012

Potjewijd Judith, de Paus Roelof A, van Wengen Annelies, Damoiseaux Jan, Verbon Annelies, van de Vosse Esther

Abstract excerpt

A patient presented with late onset disseminated nontuberculous mycobacterium (NTM) infection due to a novel interleukin-12/interleukin-23 receptor β1 (IL-12/IL-23Rβ1) mutation, r.1561C>G, leading to the amino acid substitution R521G. This is the second patient reported with a partial IL-12/IL-23Rβ1 defect.

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Source

Identifiers

PMID: 22695533
DOI: 10.1016/j.clim.2012.05.007

Genes

NTM

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