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

Ralf Paus; Judith Potjewijd; Roelof A. de Paus; Annelies van Wengen; Jan Damoiseaux; Annelies Verbon; Esther 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 β1 deficiency

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

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

Abstract

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. © 2012 Elsevier Inc.

Original language	English
Pages (from-to)	83-86
Number of pages	3
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

Interleukin-12/23 receptor β1 deficiency
Nontuberculous mycobacteria
Type-1 cytokine pathway

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.clim.2012.05.007

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title = "Disseminated Mycobacterium genavense infection in a patient with a novel partial interleukin-12/23 receptor β1 deficiency",

abstract = "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. {\textcopyright} 2012 Elsevier Inc.",

keywords = "Interleukin-12/23 receptor β1 deficiency, Nontuberculous mycobacteria, Type-1 cytokine pathway",

author = "Ralf Paus and Judith Potjewijd and {de Paus}, {Roelof A.} and {van Wengen}, Annelies and Jan Damoiseaux and Annelies Verbon and {de Vosse}, {Esther van}",

year = "2012",

month = aug,

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

language = "English",

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T1 - Disseminated Mycobacterium genavense infection in a patient with a novel partial interleukin-12/23 receptor β1 deficiency

AU - Paus, Ralf

AU - Potjewijd, Judith

AU - de Paus, Roelof A.

AU - van Wengen, Annelies

AU - Damoiseaux, Jan

AU - Verbon, Annelies

AU - de Vosse, Esther van

PY - 2012/8

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N2 - 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. © 2012 Elsevier Inc.

AB - 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. © 2012 Elsevier Inc.

KW - Interleukin-12/23 receptor β1 deficiency

KW - Nontuberculous mycobacteria

KW - Type-1 cytokine pathway

U2 - 10.1016/j.clim.2012.05.007

DO - 10.1016/j.clim.2012.05.007

M3 - Article

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SP - 83

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JO - Clinical Immunology

JF - Clinical Immunology

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ER -

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

Abstract

Keywords

UN SDGs

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