Aydan Ikinciogullari1, Deniz Cagdas2, Figen Dogu3, Tuba Tugrul2, Gulsum Karasu4, Sule Haskologlu3, Serap Aksoylar5, Vedat Uygun4, Alphan Kupesiz6, Alisan Yildiran7, Orhan Gursel8, Can Ates9, Atilla Elhan10, Savas Kansoy5, Akif Yesilipek4, Ilhan Tezcan2. 1. Department of Pediatric Immunology and Allergy, BMT Unit, Ankara University Medical School, Mamak, Cad. Dikimevi, 06100, Ankara, Turkey. aydani@medicine.ankara.edu.tr. 2. Department of Pediatric Immunology, Hacettepe University Medical School, Ankara, Turkey. 3. Department of Pediatric Immunology and Allergy, BMT Unit, Ankara University Medical School, Mamak, Cad. Dikimevi, 06100, Ankara, Turkey. 4. Department of Pediatric Hematology, BMT Unit, Bahcesehir University, İstanbul, Turkey. 5. Pediatric BMT Center, Ege University Medical School, Bornova, İzmir, Turkey. 6. Department of Oncology, BMT Unit, Akdeniz University Medical School, Antalya, Turkey. 7. Department of Pediatric Immunology and Allergy, Ondokuz Mayıs University, Samsun, Turkey. 8. Department of Pediatric Hematology, Gulhane Military Medical School, Ankara, Turkey. 9. Department of Biostatistics, Yuzuncu Yil University Medical School, Van, Turkey. 10. Department of Biostatistics, Ankara University Medical School, Ankara, Turkey.
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.
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 SCIDpatients 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 SCIDpatients 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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Authors: Sung-Yun Pai; Brent R Logan; Linda M Griffith; Rebecca H Buckley; Roberta E Parrott; Christopher C Dvorak; Neena Kapoor; Imelda C Hanson; Alexandra H Filipovich; Soma Jyonouchi; Kathleen E Sullivan; Trudy N Small; Lauri Burroughs; Suzanne Skoda-Smith; Ann E Haight; Audrey Grizzle; Michael A Pulsipher; Ka Wah Chan; Ramsay L Fuleihan; Elie Haddad; Brett Loechelt; Victor M Aquino; Alfred Gillio; Jeffrey Davis; Alan Knutsen; Angela R Smith; Theodore B Moore; Marlis L Schroeder; Frederick D Goldman; James A Connelly; Matthew H Porteus; Qun Xiang; William T Shearer; Thomas A Fleisher; Donald B Kohn; Jennifer M Puck; Luigi D Notarangelo; Morton J Cowan; Richard J O'Reilly Journal: N Engl J Med Date: 2014-07-31 Impact factor: 91.245