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

  • Hassan Abolhassani
  • Fatemeh Kiaee
  • Marzieh Tavakol
  • Zahra Chavoshzadeh
  • Seyed Alireza Mahdaviani
  • Tooba Momen
  • Reza Yazdani
  • Gholamreza Azizi
  • Sima Habibi
  • Mohammad Gharagozlou
  • Masoud Movahedi
  • Amir Ali Hamidieh
  • Nasrin Behniafard
  • Mohammamd Nabavi
  • Mohammad Hassan Bemanian
  • Saba Arshi
  • Rasol Molatefi
  • Roya Sherkat
  • Afshin Shirkani
  • Reza Amin
  • Soheila Aleyasin
  • Reza Faridhosseini
  • Farahzad Jabbari-Azad
  • Iraj Mohammadzadeh
  • Javad Ghaffari
  • Alireza Shafiei
  • Arash Kalantari
  • Mahboubeh Mansouri
  • Mehrnaz Mesdaghi
  • Delara Babaie
  • Hamid Ahanchian
  • Maryam Khoshkhui
  • Habib Soheili
  • Mohammad Hossein Eslamian
  • Taher Cheraghi
  • Abbas Dabbaghzadeh
  • Mahmoud Tavassoli
  • Rasoul Nasiri Kalmarzi
  • Seyed Hamidreza Mortazavi
  • Sara Kashef
  • Hossein Esmaeilzadeh
  • Javad Tafaroji
  • Abbas Khalili
  • Fariborz Zandieh
  • Mahnaz Sadeghi-Shabestari
  • Sepideh Darougar
  • Fatemeh Behmanesh
  • Hedayat Akbari
  • Mohammadreza Zandkarimi
  • Farhad Abolnezhadian
  • Abbas Fayezi
  • Mojgan Moghtaderi
  • Akefeh Ahmadiafshar
  • Behzad Shakerian
  • Vahid Sajedi
  • Behrang Taghvaei
  • Mojgan Safari
  • Marzieh Heidarzadeh
  • Babak Ghalebaghi
  • Seyed Mohammad Fathi
  • Behzad Darabi
  • Saeed Bazregari
  • Nasrin Bazargan
  • Morteza Fallahpour
  • Alireza Khayatzadeh
  • Naser Javahertrash
  • Bahram Bashardoust
  • Mohammadali Zamani
  • Azam Mohsenzadeh
  • Sarehsadat Ebrahimi
  • Samin Sharafian
  • Ahmad Vosughimotlagh
  • Mitra Tafakoridelbari
  • Maziar Rahimi
  • Parisa Ashournia
  • Anahita Razaghian
  • Arezou Rezaei
  • Setareh Mamishi
  • Nima Parvaneh
  • Nima Rezaei
  • Lennart Hammarström
  • Asghar Aghamohammadi
Original Article
  • 12 Downloads

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.

Keywords

Epidemiology Iran primary immunodeficiency molecular diagnosis 

Notes

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.

Compliance with Ethical Standards

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.

Supplementary material

10875_2018_556_MOESM1_ESM.docx (23 kb)
ESM 1 (DOCX 22 kb)

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  • Hassan Abolhassani
    • 1
    • 2
    • 3
  • Fatemeh Kiaee
    • 1
    • 3
  • Marzieh Tavakol
    • 4
  • Zahra Chavoshzadeh
    • 5
  • Seyed Alireza Mahdaviani
    • 6
  • Tooba Momen
    • 7
  • Reza Yazdani
    • 1
    • 3
  • Gholamreza Azizi
    • 8
  • Sima Habibi
    • 1
    • 3
  • Mohammad Gharagozlou
    • 9
  • Masoud Movahedi
    • 9
  • Amir Ali Hamidieh
    • 10
  • Nasrin Behniafard
    • 11
  • Mohammamd Nabavi
    • 12
  • Mohammad Hassan Bemanian
    • 12
  • Saba Arshi
    • 12
  • Rasol Molatefi
    • 13
  • Roya Sherkat
    • 14
  • Afshin Shirkani
    • 15
  • Reza Amin
    • 16
  • Soheila Aleyasin
    • 16
  • Reza Faridhosseini
    • 17
  • Farahzad Jabbari-Azad
    • 17
  • Iraj Mohammadzadeh
    • 18
  • Javad Ghaffari
    • 19
  • Alireza Shafiei
    • 20
  • Arash Kalantari
    • 21
  • Mahboubeh Mansouri
    • 22
  • Mehrnaz Mesdaghi
    • 22
  • Delara Babaie
    • 5
  • Hamid Ahanchian
    • 17
  • Maryam Khoshkhui
    • 17
  • Habib Soheili
    • 23
  • Mohammad Hossein Eslamian
    • 24
  • Taher Cheraghi
    • 25
  • Abbas Dabbaghzadeh
    • 18
    • 43
  • Mahmoud Tavassoli
    • 26
  • Rasoul Nasiri Kalmarzi
    • 27
  • Seyed Hamidreza Mortazavi
    • 28
  • Sara Kashef
    • 16
  • Hossein Esmaeilzadeh
    • 16
  • Javad Tafaroji
    • 29
  • Abbas Khalili
    • 30
  • Fariborz Zandieh
    • 20
  • Mahnaz Sadeghi-Shabestari
    • 31
  • Sepideh Darougar
    • 6
  • Fatemeh Behmanesh
    • 16
  • Hedayat Akbari
    • 16
  • Mohammadreza Zandkarimi
    • 17
  • Farhad Abolnezhadian
    • 32
  • Abbas Fayezi
    • 32
  • Mojgan Moghtaderi
    • 17
  • Akefeh Ahmadiafshar
    • 33
  • Behzad Shakerian
    • 26
  • Vahid Sajedi
    • 34
  • Behrang Taghvaei
    • 35
  • Mojgan Safari
    • 24
  • Marzieh Heidarzadeh
    • 36
  • Babak Ghalebaghi
    • 25
  • Seyed Mohammad Fathi
    • 37
  • Behzad Darabi
    • 38
  • Saeed Bazregari
    • 15
  • Nasrin Bazargan
    • 39
  • Morteza Fallahpour
    • 12
  • Alireza Khayatzadeh
    • 1
  • Naser Javahertrash
    • 12
  • Bahram Bashardoust
    • 6
  • Mohammadali Zamani
    • 40
  • Azam Mohsenzadeh
    • 41
  • Sarehsadat Ebrahimi
    • 9
  • Samin Sharafian
    • 9
  • Ahmad Vosughimotlagh
    • 9
  • Mitra Tafakoridelbari
    • 9
  • Maziar Rahimi
    • 9
  • Parisa Ashournia
    • 9
  • Anahita Razaghian
    • 9
  • Arezou Rezaei
    • 1
    • 3
  • Setareh Mamishi
    • 42
  • Nima Parvaneh
    • 1
    • 3
  • Nima Rezaei
    • 1
    • 3
  • Lennart Hammarström
    • 2
  • Asghar Aghamohammadi
    • 1
    • 3
  1. 1.Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center HospitalTehran University of Medical SciencesTehranIran
  2. 2.Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska InstituteKarolinska University Hospital HuddingeStockholmSweden
  3. 3.Iranian Primary Immunodeficiencies Network (IPIN)Tehran University of Medical ScienceTehranIran
  4. 4.Non-communicable Diseases Research CenterAlborz University of Medical SciencesKarajIran
  5. 5.Pediatric Infections Research Center, Mofid Children’s HospitalShahid Beheshti University of Medical SciencesTehranIran
  6. 6.Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD)Shahid Beheshti University of Medical SciencesTehranIran
  7. 7.Department of Allergy and Clinical Immunology, Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-Communicable DiseaseIsfahan University of Medical SciencesIsfahanIran
  8. 8.Department of Laboratory Medicine, Imam Hassan Mojtaba HospitalAlborz University of Medical SciencesKarajIran
  9. 9.Division of Allergy and Clinical Immunology, Department of Pediatrics, Pediatrics Center of Excellence, Children’s Medical Center, TehranUniversity of Medical SciencesTehranIran
  10. 10.Hematology, Oncology and Stem Cell Transplantation Research CentreTehran University of Medical SciencesTehranIran
  11. 11.Department of Allergy and Clinical ImmunologyShahid Sadoughi University of Medical SciencesYazdIran
  12. 12.Department of Allergy and Clinical Immunology, Rasool e Akram HospitalIran University of Medical SciencesTehranIran
  13. 13.Department of PediatricsBo-Ali children’s Hospital of Ardabil University of Medical SciencesArdabilIran
  14. 14.Acquired Immunodeficiency Research Centerlsfahan University of Medical SciencesIsfahanIran
  15. 15.Allergy and Clinical Immunology DepartmentBushehr University of Medical Science, School of MedicineBushehrIran
  16. 16.Allergy Research CenterShiraz University of Medical SciencesShirazIran
  17. 17.Allergy Research CenterMashhad University of Medical SciencesMashhadIran
  18. 18.Noncommunicable Pediatric Diseases Research Center, Amirkola HospitalBabol University of Medical SciencesBabolIran
  19. 19.Department of PediatricsMazandaran University of Medical SciencesSariIran
  20. 20.Department of Immunology, Bahrami HospitalTehran University of Medical SciencesTehranIran
  21. 21.Department of Immunology and Allergy, Imam Khomeini HospitalTehran University of Medical SciencesTehranIran
  22. 22.Immunology and Allergy Department, Mofid Children’s HospitalShahid Beheshti University of Medical ScienceTehranIran
  23. 23.Department of Pediatrics, School of MedicineArak University of Medical SciencesArakIran
  24. 24.Department of PediatricsHamadan University of Medical SciencesHamadanIran
  25. 25.Department of Pediatrics, 17th Shahrivar Children’s HospitalGuilan University of Medical SciencesRashtIran
  26. 26.Department of Immunology, School of MedicineIsfahan University of Medical SciencesIsfahanIran
  27. 27.Cellular & Molecular Research CenterKurdistan University of Medical SciencesSanandajIran
  28. 28.Department of PediatricsKermanshah University of Medical SciencesKermanshahIran
  29. 29.Department of PediatricsQom University of Medical SciencesQomIran
  30. 30.Department of PediatricsShahid Sadoughi University of Medical SciencesYazdIran
  31. 31.Department of Immunology and AllergyTabriz University of Medical SciencesTabrizIran
  32. 32.Department of Immunology and AllergyAhvaz University of Medical SciencesAhvazIran
  33. 33.Mousavi HospitalZanjan University of Meical SciencesZanjanIran
  34. 34.Department of Immunology and AllergyHormozgan University of Medical SciencesBandar AbbasIran
  35. 35.Department of Immunology and AllergySemnan University of Medical SciencesSemnanIran
  36. 36.Department of Immunology and AllergyKashan University of Medical SciencesKashanIran
  37. 37.Department of Immunology and AllergyQazvin University of Medical SciencesQazvinIran
  38. 38.Department of Immunology and AllergyIlam University of Medical SciencesIlamIran
  39. 39.Department of Immunology and AllergyKerman University of Medical SciencesKermanIran
  40. 40.Department of Immunology and AllergyShahrekord University of Medical SciencesShahrekordIran
  41. 41.Department of PediatricsLorestan University of Medical SciencesKhorramabadIran
  42. 42.Pediatric Infectious Diseases Research Center, Pediatrics Center of Excellence, Children’s Medical CenterTehran University of Medical ScienceTehranIran
  43. 43.Department of Allergy and Clinical Immunology, Pediatric Infectious Diseases Research Center, Faculty of MedicineMazandaran University of Medical SciencesSariIran

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