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

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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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Acknowledgments

We thank patients and their families for participation in this study; Dr. Melanie Migaud for assistance with genetic analyses; and Dr. Sabereh Tashayoie-Nejad for the collection of patients’ blood samples.

Funding

The Laboratory of Human Genetics of Infectious Diseases is supported in part by institutional grants from INSERM, Paris Descartes University, St. Giles Foundation, The Rockefeller University Center for Clinical and Translational Science grant number 8UL1TR000043 from the National Center for Research Resources and the National Center for Advancing Sciences (NCATS), National Institutes of Health, the National Institute of Allergy and Infectious Diseases (5R01AI089970-02 and 5R37AI095983), and grants from the French National Research Agency (ANR) under the “Investments for the future” program (ANR-10-IAHU-01) and GENMSMD (ANR-16-CE17-0005-01 for JB) grants.

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Authors and Affiliations

  1. Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran

    Seyed Alireza Mahdaviani, Davood Mansouri, Mahnaz Jamee, Karim Rahimi Aghdam, Mahshid Movahedi, Hosseinali Ghaffaripour, Nooshin Baghaie, Maryam Hassanzad, Mehdi Ghaini, Farzad Noori, Shabnam Eskandarzadeh & Ali Akbar Velayati

  2. Clinical Tuberculosis and Epidemiology Research Centre, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran

    Davood Mansouri, Esmail Mortaz, Payam Tabarsi, Afshin Moniri & Majid Marjani

  3. Department of Clinical Immunology and Infectious Diseases, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran

    Davood Mansouri

  4. Student Research Committee, Alborz University of Medical Sciences, Karaj, Iran

    Mahnaz Jamee

  5. Alborz office of USERN, Universal Scientific Education and Research Network (USERN), Alborz university of medical sciences, Karaj, Iran

    Mahnaz Jamee

  6. Legal Medicine Research Center, Legal Medicine Organization, Tehran, Iran

    Majid Zaki-Dizaji

  7. Research Center for Immunodeficiencies, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran

    Majid Zaki-Dizaji, MirHojjat Khorasanizadeh & Mahsa Eskian

  8. Immunology and Allergy Department, Mofid Children’s Hospital, Shahid Beheshti University of Medical Science, Tehran, Iran

    Zahra Chavoshzadeh, Mahboubeh Mansouri & Mehrnaz Mesdaghi

  9. Mycobacteriology Research Centre (MRC), National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran

    Shahram Kahkooi & Parisa Farnia

  10. Chronic Respiratory Diseases Research Centre, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran

    Mihan Poorabdolah

  11. Pediatric Infections Research Center, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran

    Abdollah Karimi

  12. Network of Immunity in Infection, Malignancy, and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran

    Nima Rezaei

  13. Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran

    Nima Rezaei

  14. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, Paris Descartes University, Imagine Institute, 75015, Paris, France

    Stéphanie Boisson-Dupuis, Jean-Laurent Casanova & Jacinta Bustamante

  15. St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065, USA

    Stéphanie Boisson-Dupuis, Jean-Laurent Casanova & Jacinta Bustamante

  16. Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, 75015, Paris, France

    Jean-Laurent Casanova

  17. Howard Hughes Medical Institute, New York, NY, 10065, USA

    Jean-Laurent Casanova

  18. Center for the Study of Primary Immunodeficiencies, Necker Hospital for Sick Children, AP-HP, Paris, EU, France

    Jacinta Bustamante

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  1. Seyed Alireza Mahdaviani
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  2. Davood Mansouri
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  30. Ali Akbar Velayati
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Correspondence to Davood Mansouri.

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The present study was conducted according to the principles expressed in the Helsinki declaration and ethical standards of the National Research Institute of Tuberculosis and Lung Diseases (NRITLD) committee (IR.SBMU.NRITLD.REC.1397.510). The informed consent was obtained from all patients and/or their parents.

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Mahdaviani, S.A., Mansouri, D., Jamee, M. et al. Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical and Genetic Features of 32 Iranian Patients. J Clin Immunol 40, 872–882 (2020). https://doi.org/10.1007/s10875-020-00813-7

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  • DOI: https://doi.org/10.1007/s10875-020-00813-7

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