Clinical Features and HSCT Outcome for SCID in 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...

Full description

Saved in:
Bibliographic Details
Published in:Journal of clinical immunology 2019-04, Vol.39 (3), p.316-323
Main Authors: Ikinciogullari, Aydan, Cagdas, Deniz, Dogu, Figen, Tugrul, Tuba, Karasu, Gulsum, Haskologlu, Sule, Aksoylar, Serap, Uygun, Vedat, Kupesiz, Alphan, Yildiran, Alisan, Gursel, Orhan, Ates, Can, Elhan, Atilla, Kansoy, Savas, Yesilipek, Akif, Tezcan, Ilhan
Format: Article
Language:English
Subjects:
Biomedical and Life Sciences
Biomedicine
Consanguinity
Diagnosis
Hematopoietic stem cells
Immune response (cell-mediated)
Immunoglobulins
Immunology
Infectious Diseases
Internal Medicine
Lymphocytes B
Lymphocytes T
Lymphopenia
Medical Microbiology
Medical screening
Original Article
Patients
Phenotypes
Severe combined immunodeficiency
Stem cell transplantation
Transplants & implants
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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  
ISSN:0271-9142
1573-2592
DOI:10.1007/s10875-019-00610-x