Severe disseminated mycobacterial infection in a boy with a novel mutation leading to IFN-γR2 deficiency

Ralf Paus; Sara Sebnem Kilic; Annelies van Wengen; Roelof A. de Paus; Solmaz Celebi; Bouchra Meziane; Demet Hafizoglu; Jaap T. van Dissel; Esther van de Vosse

doi:10.1016/j.jinf.2012.08.008

Severe disseminated mycobacterial infection in a boy with a novel mutation leading to IFN-γR2 deficiency

Ralf Paus, Sara Sebnem Kilic, Annelies van Wengen, Roelof A. de Paus, Solmaz Celebi, Bouchra Meziane, Demet Hafizoglu, Jaap T. van Dissel, Esther van de Vosse

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

Abstract

Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare syndrome characterized by predisposition to severe, sometimes lethal, disease caused by otherwise poorly virulent mycobacteria. We report here a boy with a recurrent mycobacterial infection from the age of five months. Immunological analyses revealed an inability to respond to IFN-γ, subsequent genetic analyses revealed a novel homozygous mutation, r.679G > A in the IFNGR2 gene, resulting in a G227R substitution, that caused IFN-γR2 deficiency. This is only the 8th mutation in IFN-γR2 known so far. The boy eventually died of hepatic coma due to liver failure at the age of five. © 2012 The British Infection Association.

Original language	English
Pages (from-to)	568-572
Number of pages	4
Journal	Journal Of Infection
Volume	65
Issue number	6
DOIs	https://doi.org/10.1016/j.jinf.2012.08.008
Publication status	Published - Dec 2012

Keywords

IFN-γR2
IFNGR2
Immunodeficiency
Mendelian susceptibility to mycobacterial disease
Mutation
Mycobacterial infection
Primary immunodeficiency

UN SDGs

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

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10.1016/j.jinf.2012.08.008

Cite this

@article{198d32d5d4494f36ab0f807e897333eb,

title = "Severe disseminated mycobacterial infection in a boy with a novel mutation leading to IFN-γR2 deficiency",

abstract = "Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare syndrome characterized by predisposition to severe, sometimes lethal, disease caused by otherwise poorly virulent mycobacteria. We report here a boy with a recurrent mycobacterial infection from the age of five months. Immunological analyses revealed an inability to respond to IFN-γ, subsequent genetic analyses revealed a novel homozygous mutation, r.679G > A in the IFNGR2 gene, resulting in a G227R substitution, that caused IFN-γR2 deficiency. This is only the 8th mutation in IFN-γR2 known so far. The boy eventually died of hepatic coma due to liver failure at the age of five. {\textcopyright} 2012 The British Infection Association.",

keywords = "IFN-γR2, IFNGR2, Immunodeficiency, Mendelian susceptibility to mycobacterial disease, Mutation, Mycobacterial infection, Primary immunodeficiency",

author = "Ralf Paus and Kilic, {Sara Sebnem} and {van Wengen}, Annelies and {de Paus}, {Roelof A.} and Solmaz Celebi and Bouchra Meziane and Demet Hafizoglu and {van Dissel}, {Jaap T.} and {van de Vosse}, Esther",

year = "2012",

month = dec,

doi = "10.1016/j.jinf.2012.08.008",

language = "English",

volume = "65",

pages = "568--572",

journal = "Journal Of Infection",

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T1 - Severe disseminated mycobacterial infection in a boy with a novel mutation leading to IFN-γR2 deficiency

AU - Paus, Ralf

AU - Kilic, Sara Sebnem

AU - van Wengen, Annelies

AU - de Paus, Roelof A.

AU - Celebi, Solmaz

AU - Meziane, Bouchra

AU - Hafizoglu, Demet

AU - van Dissel, Jaap T.

AU - van de Vosse, Esther

PY - 2012/12

Y1 - 2012/12

N2 - Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare syndrome characterized by predisposition to severe, sometimes lethal, disease caused by otherwise poorly virulent mycobacteria. We report here a boy with a recurrent mycobacterial infection from the age of five months. Immunological analyses revealed an inability to respond to IFN-γ, subsequent genetic analyses revealed a novel homozygous mutation, r.679G > A in the IFNGR2 gene, resulting in a G227R substitution, that caused IFN-γR2 deficiency. This is only the 8th mutation in IFN-γR2 known so far. The boy eventually died of hepatic coma due to liver failure at the age of five. © 2012 The British Infection Association.

AB - Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare syndrome characterized by predisposition to severe, sometimes lethal, disease caused by otherwise poorly virulent mycobacteria. We report here a boy with a recurrent mycobacterial infection from the age of five months. Immunological analyses revealed an inability to respond to IFN-γ, subsequent genetic analyses revealed a novel homozygous mutation, r.679G > A in the IFNGR2 gene, resulting in a G227R substitution, that caused IFN-γR2 deficiency. This is only the 8th mutation in IFN-γR2 known so far. The boy eventually died of hepatic coma due to liver failure at the age of five. © 2012 The British Infection Association.

KW - IFN-γR2

KW - IFNGR2

KW - Immunodeficiency

KW - Mendelian susceptibility to mycobacterial disease

KW - Mutation

KW - Mycobacterial infection

KW - Primary immunodeficiency

U2 - 10.1016/j.jinf.2012.08.008

DO - 10.1016/j.jinf.2012.08.008

M3 - Article

SN - 1532-2742

VL - 65

SP - 568

EP - 572

JO - Journal Of Infection

JF - Journal Of Infection

IS - 6

ER -

Severe disseminated mycobacterial infection in a boy with a novel mutation leading to IFN-γR2 deficiency

Abstract

Keywords

UN SDGs

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