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30.06.2020 | Original Article

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

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

Erschienen in: Journal of Clinical Immunology | Ausgabe 6/2020

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Abstract

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 of MSMD deficiencies are isolated, referred to as selective susceptibility to mycobacterial diseases. However, other deficiencies are syndromic MSMD, defined by the combination of the mycobacterial infection with another, equally common, infectious, specific phenotypes. Herein, we described a series of 32 Iranian MSMD cases identified with seven distinct types of molecular defects, all of which are involved in the interferon gamma (IFNγ) immunity, including interleukin IL-12 receptor-β1 (IL-12Rβ1) deficiency (fifteen cases), IL-12p40 deficiency (ten cases), and IL-23R deficiency (three cases), as well as IFNγ receptor 1 (IFNγR1) deficiency, IFNγ receptor 2 (IFNγR2) deficiency, interferon-stimulated gene 15 (ISG15) deficiency, and tyrosine kinase 2 (TYK2) deficiency each in one case. Since the first report of two MSMD patients in our center, we identified 30 other affected patients with similar clinical manifestations. As the number of reported Iranian cases with MSMD diagnosis has increased in recent years and according to the national vaccination protocol, all Iranian newborns receive BCG vaccination at birth, early diagnosis, and therapeutic intervention which are required for a better outcome and also prevention of similar birth defects. Therefore, we investigated the clinical and molecular features of these 32 patients. The current report also defined novel classes of pathological mutations, further expanding our knowledge of the MSMD molecular basis and associated clinical manifestations.

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Titel: Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical and Genetic Features of 32 Iranian Patients
verfasst von: Seyed Alireza Mahdaviani
Davood Mansouri
Mahnaz Jamee
Majid Zaki-Dizaji
Karim Rahimi Aghdam
Esmail Mortaz
MirHojjat Khorasanizadeh
Mahsa Eskian
Mahshid Movahedi
Hosseinali Ghaffaripour
Nooshin Baghaie
Maryam Hassanzad
Zahra Chavoshzadeh
Mahboubeh Mansouri
Mehrnaz Mesdaghi
Mehdi Ghaini
Farzad Noori
Shabnam Eskandarzadeh
Shahram Kahkooi
Mihan Poorabdolah
Payam Tabarsi
Afshin Moniri
Parisa Farnia
Abdollah Karimi
Stéphanie Boisson-Dupuis
Nima Rezaei
Majid Marjani
Jean-Laurent Casanova
Jacinta Bustamante
Ali Akbar Velayati
Publikationsdatum: 30.06.2020
Verlag: Springer US
Erschienen in: Journal of Clinical Immunology / Ausgabe 6/2020
Print ISSN: 0271-9142
Elektronische ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-020-00813-7

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

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