Disseminated Mycobacterium genavense infection in a patient with a novel partial interleukin-12/23 receptor beta1 deficiency

J. Potjewijd; R.A. de Paus; A. van Wengen; J.G.M.C. Damoiseaux; A. Verbon; E. van de Vosse

doi:10.1016/j.clim.2012.05.007

Disseminated Mycobacterium genavense infection in a patient with a novel partial interleukin-12/23 receptor beta1 deficiency

J. Potjewijd^*, R.A. de Paus, A. van Wengen, J.G.M.C. Damoiseaux, A. Verbon, E. van de Vosse

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

A patient presented with late onset disseminated nontuberculous mycobacterium (NTM) infection due to a novel interleukin-12/interleukin-23 receptor beta1 (IL-12/IL-23Rbeta1) mutation, r.1561C>G, leading to the amino acid substitution R521G. This is the second patient reported with a partial IL-12/IL-23Rbeta1 defect.

Original language	English
Pages (from-to)	83-86
Number of pages	4
Journal	Clinical Immunology
Volume	144
Issue number	2
DOIs	https://doi.org/10.1016/j.clim.2012.05.007
Publication status	Published - Aug 2012

Keywords

Type-1 cytokine pathway
Nontuberculous mycobacteria
Interleukin-12/23 receptor beta 1 deficiency
IL-12R-BETA-1 DEFICIENCY
IMMUNITY

Access to Document

10.1016/j.clim.2012.05.007

Cite this

@article{4d2f7bd6e745415e99220394797b152e,

title = "Disseminated Mycobacterium genavense infection in a patient with a novel partial interleukin-12/23 receptor beta1 deficiency",

abstract = "A patient presented with late onset disseminated nontuberculous mycobacterium (NTM) infection due to a novel interleukin-12/interleukin-23 receptor beta1 (IL-12/IL-23Rbeta1) mutation, r.1561C>G, leading to the amino acid substitution R521G. This is the second patient reported with a partial IL-12/IL-23Rbeta1 defect.",

keywords = "Type-1 cytokine pathway, Nontuberculous mycobacteria, Interleukin-12/23 receptor beta 1 deficiency, IL-12R-BETA-1 DEFICIENCY, IMMUNITY",

author = "J. Potjewijd and {de Paus}, R.A. and {van Wengen}, A. and J.G.M.C. Damoiseaux and A. Verbon and {van de Vosse}, E.",

year = "2012",

month = aug,

doi = "10.1016/j.clim.2012.05.007",

language = "English",

volume = "144",

pages = "83--86",

journal = "Clinical Immunology",

issn = "1521-6616",

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AU - Potjewijd, J.

AU - de Paus, R.A.

AU - van Wengen, A.

AU - Damoiseaux, J.G.M.C.

AU - Verbon, A.

AU - van de Vosse, E.

PY - 2012/8

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AB - A patient presented with late onset disseminated nontuberculous mycobacterium (NTM) infection due to a novel interleukin-12/interleukin-23 receptor beta1 (IL-12/IL-23Rbeta1) mutation, r.1561C>G, leading to the amino acid substitution R521G. This is the second patient reported with a partial IL-12/IL-23Rbeta1 defect.

KW - Type-1 cytokine pathway

KW - Nontuberculous mycobacteria

KW - Interleukin-12/23 receptor beta 1 deficiency

KW - IL-12R-BETA-1 DEFICIENCY

KW - IMMUNITY

U2 - 10.1016/j.clim.2012.05.007

DO - 10.1016/j.clim.2012.05.007

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