Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical and Genetic Features of 32 Iranian Patients.

doi:10.1007/s10875-020-00813-7

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Article

Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical and Genetic Features of 32 Iranian Patients.

Journal of clinical immunology - 1 Aug 2020

Mahdaviani Seyed Alireza, Mansouri Davood, Jamee Mahnaz, Zaki-Dizaji Majid, Aghdam Karim Rahimi, Mortaz Esmail, Khorasanizadeh MirHojjat, Eskian Mahsa, Movahedi Mahshid, Ghaffaripour Hosseinali, Baghaie Nooshin, Hassanzad Maryam, Chavoshzadeh Zahra, Mansouri Mahboubeh, Mesdaghi Mehrnaz, Ghaini Mehdi, Noori Farzad, Eskandarzadeh Shabnam, Kahkooi Shahram, Poorabdolah Mihan, Tabarsi Payam, Moniri Afshin, Farnia Parisa, Karimi Abdollah, Boisson-Dupuis Stéphanie, Rezaei Nima, Marjani Majid, Casanova Jean-Laurent, Bustamante Jacinta, Velayati Ali Akbar

Abstract excerpt

Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare congenital condition characterized by a selective predisposition to infections caused by weakly virulent mycobacteria and other types of intra-macrophagic pathogens. The 16 genes associated with MSMD display a considerable level of allelic heterogeneity, accounting for 31 distinct disorders with variable clinical presentations and prognosis. Most...

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PMID: 32602053
DOI: 10.1007/s10875-020-00813-7

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