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Article

Disseminated Mycobacterium avium complex infection in a child with partial dominant interferon gamma receptor 1 deficiency in India.

Journal of clinical immunology - 1 Jul 2015

Sharma Varun K, Pai Gautham, Deswarte Caroline, Lodha Rakesh, Singh Sarman, Kang Liew Woei, Yin Chong Chia, Casanova Jean-Laurent, Bustamante Jacinta, Kabra Sushil K

Abstract excerpt

Mendelian susceptibility to mycobacterial disease (MSMD) is a rare condition characterized by clinical disease caused by weakly virulent mycobacteria. All genes mutated in MSMD patients are involved in IFN-γ immunity. Autosomal partial dominant (PD) interferon-γ receptor 1 (IFN-γR1) deficiency is the most frequent abnormality affecting the group of MSMD patients leading to impaired response of IFN-γ. We describe...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26054576
DOI: 10.1007/s10875-015-0173-1

Genes

IFNGR1

Provenance

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