نتایج جستجو برای: mendelian susceptibility to mycobacterial disease

تعداد نتایج: 11055952  

2015
Jonathan Braue Vagishwari Murugesan Steven Holland Nishit Patel Eknath Naik Jennifer Leiding Abraham Tareq Yacoub Carlos N Prieto-Granada John Norman Greene

NF-κB essential modulator (NEMO) is a kinase integral to the macrophage TNF-α pathway, which leads to the intracellular destruction of Mycobacteria species. Defects in the NEMO pathway result in spectrum of diseases, including but not limited to ectodermal dysplasia, Mendelian susceptibility to mycobacterial diseases, and incontinentia pigmenti. In addition, paucity of NEMO can lead to the inab...

2013
A Kozlova N Zinovieva J Bustamante S Boisson-Dupuis J-L Casanova A Shcherbina

Introduction Mendelian susceptibility to mycobacterial disease (MSMD) is a rare form of primary immunodeficiencies characterized by predisposition for poorly virulent infection agents, primarily non-tuberculous mycobacteria and Salmonella. It has been shown that molecular basis of these diseases is mutations in at least 7 genes in the IL12-dependent IFN-g axis including IFNGR1, IFNGR2, IL-12/IL...

Journal: :The European respiratory journal 2008
P Sexton A C Harrison

The nontuberculous mycobacteria (NTM) exhibit heterogeneous pathogenicity in humans. Articles on known and potential human factors capable of producing susceptibility to NTM lung disease (NTMLD) were identified by a systematic search of the medical literature, and are reviewed in the present study. Patients with pre-existing structural lung disease are known to be at risk of NTMLD. Other suscep...

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