Retrospective evaluation of patients with primary immunodeficiency: Five years of experience

Yasemin Kınalı Çetin, İSMAİL REİSLİ, BAHAR GÖKTÜRK , MİNE KIRAÇ , Sevgi KELEŞ

  • Yasemin Kınalı Çetin: ANKARA ATATÜRK EĞİTİM VE ARAŞTIRMA HASTANESİ
  • İSMAİL REİSLİ: Necmettin Erbakan UNİVERSİTESİ
  • BAHAR GÖKTÜRK: KARATAY ÜNİVERSİTESİ
  • MİNE KIRAÇ: DR.ALİ KEMAL BELVİRANLI KADIN DOĞUM VE ÇOCUK HASTALIKLARI HASTANESİ
  • Sevgi KELEŞ: Necmettin Erbakan University Faculty of Medicine
  • Year : 2026
  • Vol : 42
  • Issue : 1
  •  Page : 1-7
Objective: This study aimed to gain a better understanding of the features of patients with primary immune deficiency diseases/inborn errors of immunity (PID/IEI)
in our region.
Materials and Methods: In this study, the medical records of 1163 patients with IEI who had been followed up for 5 years were retrospectively reviewed.
Results: Of the patients, 714(61.3%) were boys and 449(38.6%) were girls. The mean age of diagnosis and diagnostic delay were found as 56.5 and 27.4 months, respectively.
Immune deficiency linked to antibody deficiency comprised 90.2%(n= 1049)of all patients. The ratio and incidence of severe combined immunodeficiency(SCID)
were 2.1% and approximately one in 10000 live-birth, respectively. The Complaints of respiratory tract infection and otitis media were significantly higher (p<0.05).
The consanguinity percentage was 31.8%. First-degree cousin marriage was significantly higher in congenital defects of phagocyte, immune dysregulation, and
combined immune deficiency than in other IEIs (p<0.05 ). The history of death of a previous sibling was 12.3%, IEI in the family was 10%, and growth and development
retardation was 7.3% among our patients. While complete blood cell count(CBC) resulted in frequencies of anemia of 17.2%, neutropenia of 3.2%, lymphopenia of 5%,
and thrombocytopenia of 1.9% in all patients, the lymphopenia ratio was 87% in those with SCID. Due to recurrent infections, 95.6% of patients were administered
trimethoprim/sulfamethoxazole prophylaxis, and 5.8% received intravenous immunoglobulin replacement therapy. Forty-two percent of all patients were diagnosed
with asthma during clinical follow-up, and chronic lung pathology was found in 7.8% of the patients.
Conclusion: This study reveals that primary immune deficiency frequency was found higher in Konya city than the stated prevalence in literature and consanguinity
among parents may be a remarkable factor and the presence of lymphopenia may be a remarkable feature for SCID.
Cite this Article As : Kinali Cetin Y, Reisli I, Gokturk B, Kirac M, Keles S. Retrospective Evaluation of Patients with Primary Immunodeficiency: Five Years of Experience. Selcuk Med J 2026;42(1): 1-7

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Conflict of interest : The authors declare that they have no conflict of interest.
This article is published under the CC BY-NC 4.0 license.
Selcuk Medical Journal
2026, Vol. 42 (1)
ISSN: 1017-6616
E-ISSN: 2149-8059
Received : , Accepted : , Published Online :

References

  1. 1. Notarangelo, LD, Fischer, A., Geha, RS, et al. Primary immunodeficiencies: 2009 update. J Allergy Clin Immunol 2009;124(6): 1161–78. doi:10.1016/j.jaci.2009.10.013.
  2. 2. Tangye SG, Al-Herz W, Bousfiha A, et al. Human inborn errors of immunity: 2022 update on the classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2022;42(7):1473-507. doi: 10.1007/s10875-022-01289-3.
  3. 3. Yorulmaz A, Artaç H, Kara R, et al. Retrospective evaluation of the patients who are followed with the diagnosis of primary immunodeficiency. Astım Allerji İmmünoloji 2008; 6:127-34.
  4. 4. Mısırlıoğlu ED, Giniş T, Doğru M, et al. Primary Antibody Deficiencies In Patients Who Are Following At Allergy Department. Turkish J. Pediatr. Dis. 2010; 4(4): 219-23.
  5. 5. Gathmann B, Grimbacher B, Beaute J, et Al. The European Internet-Based Patient And Research Database For Primary Immunodeficiencies: Results 2006-2008. Clin Exp Immunol.2009;157(1):3-11. doi: 10.1111/j.1365-2249.2009.03954.x.
  6. 6. Al-Tamemi S, Elnour I, Dennison D. Primary Immunodeficiency Diseases in Oman: Five Years’ Experience at Sultan Qaboos University Hospital. World Allergy Organ Journal.2012; 5(5):52-6. doi: 10.1097/WOX.0b013e318258830f.
  7. 7. Ehlayel MS, Bener A, Laban MA. Primary immunodeficiencies diases in children:15 year experience in a tertiary care medical center in Qatar. J Clin Immunol. 2013;33(2):317-24. doi: 10.1007/s10875-012-9812-y.
  8. 8. Kilic SS, Ozel M, Hafizoglu D, et al. The prevalences and patient characteristics of primary immunodeficiency diseases in Türkiye-two centers study. J Clin Immunol 2013; 33(1):74-83. doi: 10.1007/s10875-012-9763-3.
  9. 9. Luzi G, Pesce AM, Rinaldi S. Primary immunodeficiencies in Italy. Data revised from the Italian Register of Immunodeficiencies-IRID (1977-88). Allergol Immunopathol (Madr) 1991; 19(2):53-7.
  10. 10. Matamoros Florí N, Mila Llambi J, Español Boren T, et al. Primary immunodeficiency syndrome in Spain: first report of the National Registry in Children and Adults. J Clin Immunol 1997; 17(4):333-9. doi: 10.1023/a:1027382916924.
  11. 11. Baumgart KW, Britton WJ, Kemp A, et al. The spectrum of primary immunodeficiency disorders in Australia. J Allergy Clin Immunol 1997;100(3):415-23. doi: 10.1016/s0091- 6749(97)70257-4.
  12. 12. Aghamohammadi A, Mohammadinejad P, Abolhassani H. Primary ımmunodeficiency disorders in İran : Update and new insights from the third report of the national registry. J C lin Immunol 2014; 34(4):478-90. doi: 10.1007/s10875-014-0001-z.
  13. 13. ESİD (European Society for Immunodeficiencies) www.esid.org.tr. doi.org/10.1007/s00063- 008-1107-y. Acsess date: 20/06/2024
  14. 14. Levia LE, Zelazco M Oleastro M, et al. Primary Immunodeficiency Diseases in Latin America: The Second Report of the LAGID Registry, Journal of Clinical Immunology 2007; 27(1):101-8. doi: 10.1007/s10875-006-9052-0.
  15. 15. Razael N, Aghamohammadi A, Moin M et al. Frequency and Clinical Manifestations of Patients with Primary Immunodeficiency Disorders in Iran: Update from the Iranian Primary Immunodeficiency Registry. Journal of Clinical Immunology, 2006;26(6):519-32. doi: 10.1007/s10875-006-9047-x
  16. 16. Kütükcüler N. Consanguinity Rate and Delay in Diagnosis in Turkish Patients with Combined Immunodeficiencies: a Single-Center Study. J Clin Immunol, 2011;31(1):106- 11. doi: 10.1007/s10875-010-9472-8.
  17. 17. Mohammadinejad P, Mirminachi B, Sadeghi B, et al. Distribution of primary immunodeficiency disorders diagnosed in a tertiary referral center, Tehran, Iran (2006-2013). Iran J Immunol. 2014;11(4):282-91
  18. 18. Lankisch P, Schiffner J,Sujal G. The Duesseldorf Warning Signs For Primary İmmunodeficiency: Isit Time to Change the Rules?. J Clin Immunol 2015; 35(3):273-9. doi: 10.1007/s10875-015-0149-1
  19. 19. Ödek Ç, Kendirli T, Doğu F, et al. Patients with primary ımmunodeficies in pediatric intensive care unıt:outcomes and mortality-related risk factors. J Clin Immunol. 2014
  20. ;34(3):309-15. doi: 10.1007/s10875-014-9994-6.
  21. 20. Gathmann B, Binder N, Ehl S. The European internet-based patient and research database for primary immunodeficiencies: update 2011. Clinical and Experimental Immunology 2011;167(1):479-91. doi: 10.1111/j.1365-2249.2011.04542.x.
  22. 21. Carneiro-Sampaio M, Moraes-Vasconcelos D, M. Kokron C, et al. Primary immunodeficiency diseases in different age groups: a report on 1,008 cases from a single Brazilian reference center . J Clin Immunol. 2013;33(4):716-24. doi: 10.1007/s10875-013- 9865-6.
  23. 22. Kılıç M, Taşkın E, Selmanoğlu A. The Retrospective Evaluation of Children with Primary Immunodeficiency Disease. Firat Med J 2015; 20(1): 37-42
  24. 23. Özcan C, Metin A, Erkoçoğlu M. Complemantary and alternative medicine in patients with primary immundeficiency. Turkish J Pediatr Dis. 2013;7(4):188-92. doı:10.12956/tjpd.2013.27
  25. 24. Erengin H, Alper Ö.M, Manguoğlu A.E, et al. Consanguineus marriages in province of Antalya, Türkiye. Ann Genet. 2004;47(2):129-38. doi: 10.1016/j.anngen.2003.09.001.
  26. 25. Aldırmaz S, Yücel E, Kıykım A, et al. Profile of the patients who present to immunology outpatient clinics because of frequent infections. Turkish Archives of Pediatrics. 2014;49(3):210-6. doı:10.5152/tpa.2014.1810
  27. 26. Kirkpatrick P, Riminton S. Primary immunodeficiency diseases in Australia and New Zealand. J Clin Immunol 2007; 27(5), 517-24. doi: 10.1007/s10875-007-9105-z.
  28. 27. Al-Herz W. Primary ımmunodeficiency disorders in Kuwait: first report from Kuwait National Primary Immunodeficiency Registry(2004–2006). Journal of Clinical Immunology. 2008;28(1): 186–93. doi: 10.1007/s10875-007-9144-5
  29. 28. Reda SM, Afifi HM, Amine MM. Primary Immunodeficiency Diseases In Egyptian Children: A Single-Center Study. Journal of Clinical Immunology. 2009; 29(3):343-51. doi: 10.1007/s10875-008-9260-x
  30. 29. Subbarayan A, Colarusso G, Hughes S. M, et.al. Clinical Features That Identify Children With Primary Immunodeficiency Diseases. Pediatrics 2011;127(5):810-6. doi: 10.1542/peds.2010-3680.
  31. 30. Sanal O, Tezcan I, Thirty years of primary immunodeficiencies in Türkiye. Ann N Y Acad Sci. 2011;1238(1):15-23. doi: 10.1111/j.1749-6632.2011.06242.x.
  32. 31. Korkmaz SB, Karaselek MA, Aytekin SE, et.al. S. Retrospective analysis of patients with severe combined immunodeficiency and alternative diagnostic criteria: A 20-year single centre experience. Int J Immunogenet. 2023; 50 (4): 177-84. doi: 10.1111/iji.12624.
  33. 32. Eldeniz FC, Gul Y, Yorulmaz A,et.al. Evaluation of the 10 Warning Signs in Primary and Secondary Immunodeficient Patients. Front Immunol. 2022;13(13),900055. doi: 10.3389/fimmu.2022.900055
  34. 33. Baris S, Abolhassani H, Massaad MJ, et.al. The Middle East and North Africa Diagnosis and Management Guidelines for Inborn Errors of Immunity. Allergy Clin Immunol Pract. 2023; 11(1): 158-80.e11. doi: 10.1016/j.jaip.2022.10.003.
  35. 34. Horváth Z, Rezaei N, Reisli I, et.al. The spread of the J Project. J Clin Immunol. 2013;33(6):1037-42. doi: 10.1007/s10875-013-9905-2.