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Clinical Features and HSCT Outcome for SCID in Turkey

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Abstract

Severe combined immunodeficiency (SCID) is the most serious PID, characterized by T cell lymphopenia and lack of antigen-specific T cell and B cell immune responses, inevitably leading to death within the first year of life if hematopoietic stem cell transplantation (HSCT) is not performed.

Purpose and Methods

Since SCID is a common type of PID with an estimated incidence of 1/10.000 in Turkey, a retrospective analysis of HSCT characteristics, survival, immune recovery, and the major clinical features of SCID prior to HSCT is the aim of this multi-transplant center-based analysis.

Results

A total of 234 SCID patients transplanted between the years 1994 and 2014 were included in the study. Median age at diagnosis was 5 months, at transplantation, 7 months, B− phenotype and RAGs were the most common defects among others. Immune phenotype did not seem to have an effect on survival rate (p > 0.05), Immunoglobulin (Ig) requirement following HSCT did not differ between B+ and B− phenotypes (p > 0.05). Overall survival rate was 65.7% over a period of 20 years. It increased from 54% (1994–2004) to 69% (p = 0.052) during the last 10 years (2005–2014). Ten-year survival after HSCT has improved over time although the difference was not significant. Infection at the time of transplantation (p = 0.006), mismatched related donor (MMRD) (haploidentical parents), and matched unrelated donor (MUD) donor transplants p < 0.001 were the most important factors, significantly affecting the outcome.

Conclusions

This is the first multicenter study with the largest data obtained from transplanted SCID patients in Turkey. Early diagnosis with newborn screening (NBS) together with emerging referrals, treatment by transplantation centers, and specialized teams are mandatory in countries with high parental consanguinity such as Turkey.

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Acknowledgments

We like to extend our special thanks to the nurses and staff of the contributing HSCT Centers, patients and their families.

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Authors and Affiliations

  1. Department of Pediatric Immunology and Allergy, BMT Unit, Ankara University Medical School, Mamak, Cad. Dikimevi, 06100, Ankara, Turkey

    Aydan Ikinciogullari, Figen Dogu & Sule Haskologlu

  2. Department of Pediatric Immunology, Hacettepe University Medical School, Ankara, Turkey

    Deniz Cagdas, Tuba Tugrul & Ilhan Tezcan

  3. Department of Pediatric Hematology, BMT Unit, Bahcesehir University, İstanbul, Turkey

    Gulsum Karasu, Vedat Uygun & Akif Yesilipek

  4. Pediatric BMT Center, Ege University Medical School, Bornova, İzmir, Turkey

    Serap Aksoylar & Savas Kansoy

  5. Department of Oncology, BMT Unit, Akdeniz University Medical School, Antalya, Turkey

    Alphan Kupesiz

  6. Department of Pediatric Immunology and Allergy, Ondokuz Mayıs University, Samsun, Turkey

    Alisan Yildiran

  7. Department of Pediatric Hematology, Gulhane Military Medical School, Ankara, Turkey

    Orhan Gursel

  8. Department of Biostatistics, Yuzuncu Yil University Medical School, Van, Turkey

    Can Ates

  9. Department of Biostatistics, Ankara University Medical School, Ankara, Turkey

    Atilla Elhan

Authors
  1. Aydan Ikinciogullari
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  2. Deniz Cagdas
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  3. Figen Dogu
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  4. Tuba Tugrul
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  5. Gulsum Karasu
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  6. Sule Haskologlu
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  7. Serap Aksoylar
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  10. Alisan Yildiran
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  11. Orhan Gursel
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  12. Can Ates
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  13. Atilla Elhan
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  14. Savas Kansoy
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  15. Akif Yesilipek
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  16. Ilhan Tezcan
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on behalf of Turkish Pediatric Bone Marrow Transplantation Sub Group (TPBMT-SG)

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Correspondence to Aydan Ikinciogullari.

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Ikinciogullari, A., Cagdas, D., Dogu, F. et al. Clinical Features and HSCT Outcome for SCID in Turkey. J Clin Immunol 39, 316–323 (2019). https://doi.org/10.1007/s10875-019-00610-x

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  • DOI: https://doi.org/10.1007/s10875-019-00610-x

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