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Journal of Clinical Immunology
Published in: Journal of Clinical Immunology 3/2011

01-06-2011

Clinical and Host Genetic Characteristics of Mendelian Susceptibility to Mycobacterial Diseases in Japan

Authors: Takayuki Hoshina, Hidetoshi Takada, Yuka Sasaki-Mihara, Koichi Kusuhara, Koichi Ohshima, Satoshi Okada, Masao Kobayashi, Osamu Ohara, Toshiro Hara

Published in: Journal of Clinical Immunology | Issue 3/2011

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Abstract

Purpose

The aim of this study is to investigate clinical characteristics and genetic backgrounds of Mendelian susceptibility to mycobacterial diseases (MSMD) in Japan.

Methods

Forty-six patients diagnosed as having MSMD were enrolled in this study. All patients were analyzed for the IFNGR1, IFNGR2, IL12B, IL12RB1, STAT1, and NEMO gene mutations known to be associated with MSMD.

Results

Six patients and one patient were diagnosed as having partial interferon-γ receptor 1 deficiency and nuclear factor-κB-essential modulator deficiency, respectively. Six of the seven patients had recurrent disseminated mycobacterial infections, while 93% of the patients without these mutations had only one episode of infection.

Conclusions

The patients with a genetic mutation were more susceptible to developing recurrent disseminated mycobacterial infections. Recurrent disseminated mycobacterial infections occurred in a small number of patients even without these mutations, suggesting the presence of as yet undetermined genetic factors underlying the development and progression of this disease.
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Metadata
Title
Clinical and Host Genetic Characteristics of Mendelian Susceptibility to Mycobacterial Diseases in Japan
Authors
Takayuki Hoshina
Hidetoshi Takada
Yuka Sasaki-Mihara
Koichi Kusuhara
Koichi Ohshima
Satoshi Okada
Masao Kobayashi
Osamu Ohara
Toshiro Hara
Publication date
01-06-2011
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 3/2011
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-010-9498-y

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