Tehran University of Medical Sciences

Science Communicator Platform

Stay connected! Follow us on X network (Twitter):
Share this content! On (X network) By
Fourth Update on the Iranian National Registry of Primary Immunodeficiencies: Integration of Molecular Diagnosis Publisher Pubmed



Abolhassani H1, 2, 3 ; Kiaee F1, 3 ; Tavakol M4 ; Chavoshzadeh Z5 ; Mahdaviani SA6 ; Momen T7 ; Yazdani R1, 3 ; Azizi G8 ; Habibi S1, 3 ; Gharagozlou M9 ; Movahedi M9 ; Hamidieh AA10 ; Behniafard N11 ; Nabavi M12 Show All Authors
Authors
  1. Abolhassani H1, 2, 3
  2. Kiaee F1, 3
  3. Tavakol M4
  4. Chavoshzadeh Z5
  5. Mahdaviani SA6
  6. Momen T7
  7. Yazdani R1, 3
  8. Azizi G8
  9. Habibi S1, 3
  10. Gharagozlou M9
  11. Movahedi M9
  12. Hamidieh AA10
  13. Behniafard N11
  14. Nabavi M12
  15. Bemanian MH12
  16. Arshi S12
  17. Molatefi R13
  18. Sherkat R14
  19. Shirkani A15
  20. Amin R16
  21. Aleyasin S16
  22. Faridhosseini R17
  23. Jabbariazad F17
  24. Mohammadzadeh I18
  25. Ghaffari J19
  26. Shafiei A20
  27. Kalantari A21
  28. Mansouri M22
  29. Mesdaghi M22
  30. Babaie D5
  31. Ahanchian H17
  32. Khoshkhui M17
  33. Soheili H23
  34. Eslamian MH24
  35. Cheraghi T25
  36. Dabbaghzadeh A18, 43
  37. Tavassoli M26
  38. Kalmarzi RN27
  39. Mortazavi SH28
  40. Kashef S16
  41. Esmaeilzadeh H16
  42. Tafaroji J29
  43. Khalili A30
  44. Zandieh F20
  45. Sadeghishabestari M31
  46. Darougar S6
  47. Behmanesh F16
  48. Akbari H16
  49. Zandkarimi M17
  50. Abolnezhadian F32
  51. Fayezi A32
  52. Moghtaderi M17
  53. Ahmadiafshar A33
  54. Shakerian B26
  55. Sajedi V34
  56. Taghvaei B35
  57. Safari M24
  58. Heidarzadeh M36
  59. Ghalebaghi B25
  60. Fathi SM37
  61. Darabi B38
  62. Bazregari S15
  63. Bazargan N39
  64. Fallahpour M12
  65. Khayatzadeh A1
  66. Javahertrash N12
  67. Bashardoust B6
  68. Zamani M40
  69. Mohsenzadeh A41
  70. Ebrahimi S9
  71. Sharafian S9
  72. Vosughimotlagh A9
  73. Tafakoridelbari M9
  74. Rahimi M9
  75. Ashournia P9
  76. Razaghian A9
  77. Rezaei A1, 3
  78. Mamishi S42
  79. Parvaneh N1, 3
  80. Rezaei N1, 3
  81. Hammarstrom L2
  82. Aghamohammadi A1, 3
Show Affiliations
Authors Affiliations
  1. 1. Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran
  2. 2. Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute, Karolinska University Hospital Huddinge, Stockholm, Sweden
  3. 3. Iranian Primary Immunodeficiencies Network (IPIN), Tehran University of Medical Science, Tehran, Iran
  4. 4. Non-communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran
  5. 5. Pediatric Infections Research Center, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  6. 6. Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran
  7. 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
  8. 8. Department of Laboratory Medicine, Imam Hassan Mojtaba Hospital, Alborz University of Medical Sciences, Karaj, Iran
  9. 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
  10. 10. Hematology, Oncology and Stem Cell Transplantation Research Centre, Tehran University of Medical Sciences, Tehran, Iran
  11. 11. Department of Allergy and Clinical Immunology, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
  12. 12. Department of Allergy and Clinical Immunology, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran
  13. 13. Department of Pediatrics, Bo-Ali children’s Hospital of Ardabil University of Medical Sciences, Ardabil, Iran
  14. 14. Acquired Immunodeficiency Research Center, lsfahan University of Medical Sciences, Isfahan, Iran
  15. 15. Allergy and Clinical Immunology Department, Bushehr University of Medical Science, School of Medicine, Bushehr, Iran
  16. 16. Allergy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
  17. 17. Allergy Research Center, Mashhad University of Medical Sciences, Mashhad, Iran
  18. 18. Noncommunicable Pediatric Diseases Research Center, Amirkola Hospital, Babol University of Medical Sciences, Babol, Iran
  19. 19. Department of Pediatrics, Mazandaran University of Medical Sciences, Sari, Iran
  20. 20. Department of Immunology, Bahrami Hospital, Tehran University of Medical Sciences, Tehran, Iran
  21. 21. Department of Immunology and Allergy, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran
  22. 22. Immunology and Allergy Department, Mofid Children’s Hospital, Shahid Beheshti University of Medical Science, Tehran, Iran
  23. 23. Department of Pediatrics, School of Medicine, Arak University of Medical Sciences, Arak, Iran
  24. 24. Department of Pediatrics, Hamadan University of Medical Sciences, Hamadan, Iran
  25. 25. Department of Pediatrics, 17th Shahrivar Children’s Hospital, Guilan University of Medical Sciences, Rasht, Iran
  26. 26. Department of Immunology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
  27. 27. Cellular & Molecular Research Center, Kurdistan University of Medical Sciences, Sanandaj, Iran
  28. 28. Department of Pediatrics, Kermanshah University of Medical Sciences, Kermanshah, Iran
  29. 29. Department of Pediatrics, Qom University of Medical Sciences, Qom, Iran
  30. 30. Department of Pediatrics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
  31. 31. Department of Immunology and Allergy, Tabriz University of Medical Sciences, Tabriz, Iran
  32. 32. Department of Immunology and Allergy, Ahvaz University of Medical Sciences, Ahvaz, Iran
  33. 33. Mousavi Hospital, Zanjan University of Meical Sciences, Zanjan, Iran
  34. 34. Department of Immunology and Allergy, Hormozgan University of Medical Sciences, Bandar Abbas, Iran
  35. 35. Department of Immunology and Allergy, Semnan University of Medical Sciences, Semnan, Iran
  36. 36. Department of Immunology and Allergy, Kashan University of Medical Sciences, Kashan, Iran
  37. 37. Department of Immunology and Allergy, Qazvin University of Medical Sciences, Qazvin, Iran
  38. 38. Department of Immunology and Allergy, Ilam University of Medical Sciences, Ilam, Iran
  39. 39. Department of Immunology and Allergy, Kerman University of Medical Sciences, Kerman, Iran
  40. 40. Department of Immunology and Allergy, Shahrekord University of Medical Sciences, Shahrekord, Iran
  41. 41. Department of Pediatrics, Lorestan University of Medical Sciences, Khorramabad, Iran
  42. 42. Pediatric Infectious Diseases Research Center, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Science, Tehran, Iran
  43. 43. Department of Allergy and Clinical Immunology, Pediatric Infectious Diseases Research Center, Faculty of Medicine, Mazandaran University of Medical Sciences, Sari, Iran

Source: Journal of Clinical Immunology Published:2018


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. © 2018, Springer Science+Business Media, LLC, part of Springer Nature.
2. Common Presentations and Diagnostic Approaches, Stiehm's Immune Deficiencies: Inborn Errors of Immunity (2020)
3. Comparison of Common Monogenic Defects in a Large Predominantly Antibody Deficiency Cohort, Journal of Allergy and Clinical Immunology: In Practice (2019)
4. Global Systematic Review of Primary Immunodeficiency Registries, Expert Review of Clinical Immunology (2020)
7. The Clinical and Immunological Features of Patients With Primary Antibody Deficiencies, Endocrine# Metabolic and Immune Disorders - Drug Targets (2018)
Experts (# of related papers)
Other Related Docs
12. Pulmonary Manifestations of Predominantly Antibody Deficiencies, Pulmonary Manifestations of Primary Immunodeficiency Diseases (2018)
13. Respiratory Complications in Patients With Hyper Igm Syndrome, Journal of Clinical Immunology (2019)
17. Role of Apoptosis in the Pathogenesis of Common Variable Immunodeficiency (Cvid), Endocrine# Metabolic and Immune Disorders - Drug Targets (2017)
21. Congenital Neutropenia and Primary Immunodeficiency Diseases, Critical Reviews in Oncology/Hematology (2019)
28. Monogenic Mutations Associated With Iga Deficiency, Expert Review of Clinical Immunology (2016)
29. Primary Antibody Deficiency in a Tertiary Referral Hospital: A 30-Year Experiment, Journal of Investigational Allergology and Clinical Immunology (2015)
33. Inborn Errors of Immunity and Cancers, Cancer Immunology: A Translational Medicine Context# Second Edition (2020)
40. New Presentation of Cd27 Deficiency; Coronary Ectasia and Covid-19, Iranian Journal of Allergy# Asthma and Immunology (2023)
42. Infectious and Noninfectious Pulmonary Complications in Patients With Primary Immunodeficiency Disorders, Journal of Investigational Allergology and Clinical Immunology (2017)
48. Role of Rare Immune Cells in Common Variable Immunodeficiency, Pediatric Allergy and Immunology (2022)
50. The Heterogeneous Pathogenesis of Selective Immunoglobulin a Deficiency, International Archives of Allergy and Immunology (2019)