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Fourth Update on the Iranian National Registry of Primary Immunodeficiencies: Integration of Molecular Diagnosis

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Abstract

Background

The number of inherited diseases and the spectrum of clinical manifestations of primary immunodeficiency disorders (PIDs) are ever-expanding. Molecular diagnosis using genomic approaches should be performed for all PID patients since it provides a resource to improve the management and to estimate the prognosis of patients with these rare immune disorders.

Method

The current update of Iranian PID registry (IPIDR) contains the clinical phenotype of newly registered patients during last 5 years (2013–2018) and the result of molecular diagnosis in patients enrolled for targeted and next-generation sequencing.

Results

Considering the newly diagnosed patients (n = 1395), the total number of registered PID patients reached 3056 (1852 male and 1204 female) from 31 medical centers. The predominantly antibody deficiency was the most common subcategory of PID (29.5%). The putative causative genetic defect was identified in 1014 patients (33.1%) and an autosomal recessive pattern was found in 79.3% of these patients. Among the genetically different categories of PID patients, the diagnostic rate was highest in defects in immune dysregulation and lowest in predominantly antibody deficiencies and mutations in the MEFV gene were the most frequent genetic disorder in our cohort.

Conclusions

During a 20-year registration of Iranian PID patients, significant changes have been observed by increasing the awareness of the medical community, national PID network establishment, improving therapeutic facilities, and recently by inclusion of the molecular diagnosis. The current collective study of PID phenotypes and genotypes provides a major source for ethnic surveillance, newborn screening, and genetic consultation for prenatal and preimplantation genetic diagnosis.

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Acknowledgments

We thank the patients who participated in the study and made this research study possible. The authors wish to thank Prof. Raif S. Geha (Harvard Medical School), Prof. Jean-Laurent Casanova (Rockefeller University), and Prof. Alessandro Plebani (University of Brescia) and their teams for performing next-generation sequencing on the patients with combined immunodeficiency, innate immunodeficiency, and antibody deficiency, respectively.

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Authors and Affiliations

  1. Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran

    Hassan Abolhassani, Fatemeh Kiaee, Reza Yazdani, Sima Habibi, Alireza Khayatzadeh, Arezou Rezaei, Nima Parvaneh, Nima Rezaei & Asghar Aghamohammadi

  2. Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute, Karolinska University Hospital Huddinge, Stockholm, Sweden

    Hassan Abolhassani & Lennart Hammarström

  3. Iranian Primary Immunodeficiencies Network (IPIN), Tehran University of Medical Science, Tehran, Iran

    Hassan Abolhassani, Fatemeh Kiaee, Reza Yazdani, Sima Habibi, Arezou Rezaei, Nima Parvaneh, Nima Rezaei & Asghar Aghamohammadi

  4. Non-communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran

    Marzieh Tavakol

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

    Zahra Chavoshzadeh & Delara Babaie

  6. 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, Sepideh Darougar & Bahram Bashardoust

  7. Department of Allergy and Clinical Immunology, Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran

    Tooba Momen

  8. Department of Laboratory Medicine, Imam Hassan Mojtaba Hospital, Alborz University of Medical Sciences, Karaj, Iran

    Gholamreza Azizi

  9. Division of Allergy and Clinical Immunology, Department of Pediatrics, Pediatrics Center of Excellence, Children’s Medical Center, Tehran, University of Medical Sciences, Tehran, Iran

    Mohammad Gharagozlou, Masoud Movahedi, Sarehsadat Ebrahimi, Samin Sharafian, Ahmad Vosughimotlagh, Mitra Tafakoridelbari, Maziar Rahimi, Parisa Ashournia & Anahita Razaghian

  10. Hematology, Oncology and Stem Cell Transplantation Research Centre, Tehran University of Medical Sciences, Tehran, Iran

    Amir Ali Hamidieh

  11. Department of Allergy and Clinical Immunology, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

    Nasrin Behniafard

  12. Department of Allergy and Clinical Immunology, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran

    Mohammamd Nabavi, Mohammad Hassan Bemanian, Saba Arshi, Morteza Fallahpour & Naser Javahertrash

  13. Department of Pediatrics, Bo-Ali children’s Hospital of Ardabil University of Medical Sciences, Ardabil, Iran

    Rasol Molatefi

  14. Acquired Immunodeficiency Research Center, lsfahan University of Medical Sciences, Isfahan, Iran

    Roya Sherkat

  15. Allergy and Clinical Immunology Department, Bushehr University of Medical Science, School of Medicine, Bushehr, Iran

    Afshin Shirkani & Saeed Bazregari

  16. Allergy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran

    Reza Amin, Soheila Aleyasin, Sara Kashef, Hossein Esmaeilzadeh, Fatemeh Behmanesh & Hedayat Akbari

  17. Allergy Research Center, Mashhad University of Medical Sciences, Mashhad, Iran

    Reza Faridhosseini, Farahzad Jabbari-Azad, Hamid Ahanchian, Maryam Khoshkhui, Mohammadreza Zandkarimi & Mojgan Moghtaderi

  18. Noncommunicable Pediatric Diseases Research Center, Amirkola Hospital, Babol University of Medical Sciences, Babol, Iran

    Iraj Mohammadzadeh & Abbas Dabbaghzadeh

  19. Department of Pediatrics, Mazandaran University of Medical Sciences, Sari, Iran

    Javad Ghaffari

  20. Department of Immunology, Bahrami Hospital, Tehran University of Medical Sciences, Tehran, Iran

    Alireza Shafiei & Fariborz Zandieh

  21. Department of Immunology and Allergy, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran

    Arash Kalantari

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

    Mahboubeh Mansouri & Mehrnaz Mesdaghi

  23. Department of Pediatrics, School of Medicine, Arak University of Medical Sciences, Arak, Iran

    Habib Soheili

  24. Department of Pediatrics, Hamadan University of Medical Sciences, Hamadan, Iran

    Mohammad Hossein Eslamian & Mojgan Safari

  25. Department of Pediatrics, 17th Shahrivar Children’s Hospital, Guilan University of Medical Sciences, Rasht, Iran

    Taher Cheraghi & Babak Ghalebaghi

  26. Department of Immunology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran

    Mahmoud Tavassoli & Behzad Shakerian

  27. Cellular & Molecular Research Center, Kurdistan University of Medical Sciences, Sanandaj, Iran

    Rasoul Nasiri Kalmarzi

  28. Department of Pediatrics, Kermanshah University of Medical Sciences, Kermanshah, Iran

    Seyed Hamidreza Mortazavi

  29. Department of Pediatrics, Qom University of Medical Sciences, Qom, Iran

    Javad Tafaroji

  30. Department of Pediatrics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

    Abbas Khalili

  31. Department of Immunology and Allergy, Tabriz University of Medical Sciences, Tabriz, Iran

    Mahnaz Sadeghi-Shabestari

  32. Department of Immunology and Allergy, Ahvaz University of Medical Sciences, Ahvaz, Iran

    Farhad Abolnezhadian & Abbas Fayezi

  33. Mousavi Hospital, Zanjan University of Meical Sciences, Zanjan, Iran

    Akefeh Ahmadiafshar

  34. Department of Immunology and Allergy, Hormozgan University of Medical Sciences, Bandar Abbas, Iran

    Vahid Sajedi

  35. Department of Immunology and Allergy, Semnan University of Medical Sciences, Semnan, Iran

    Behrang Taghvaei

  36. Department of Immunology and Allergy, Kashan University of Medical Sciences, Kashan, Iran

    Marzieh Heidarzadeh

  37. Department of Immunology and Allergy, Qazvin University of Medical Sciences, Qazvin, Iran

    Seyed Mohammad Fathi

  38. Department of Immunology and Allergy, Ilam University of Medical Sciences, Ilam, Iran

    Behzad Darabi

  39. Department of Immunology and Allergy, Kerman University of Medical Sciences, Kerman, Iran

    Nasrin Bazargan

  40. Department of Immunology and Allergy, Shahrekord University of Medical Sciences, Shahrekord, Iran

    Mohammadali Zamani

  41. Department of Pediatrics, Lorestan University of Medical Sciences, Khorramabad, Iran

    Azam Mohsenzadeh

  42. Pediatric Infectious Diseases Research Center, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Science, Tehran, Iran

    Setareh Mamishi

  43. Department of Allergy and Clinical Immunology, Pediatric Infectious Diseases Research Center, Faculty of Medicine, Mazandaran University of Medical Sciences, Sari, Iran

    Abbas Dabbaghzadeh

Authors
  1. Hassan Abolhassani
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Corresponding author

Correspondence to Asghar Aghamohammadi.

Ethics declarations

This study received approval from the Ethics Committee of the Tehran University of Medical Science. Moreover, written informed consent has been obtained from all patients, their parents, or legal guardians.

Conflict of Interest

The authors declare that they have no conflict of interest.

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Abolhassani, H., Kiaee, F., Tavakol, M. et al. Fourth Update on the Iranian National Registry of Primary Immunodeficiencies: Integration of Molecular Diagnosis. J Clin Immunol 38, 816–832 (2018). https://doi.org/10.1007/s10875-018-0556-1

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