Single-Center Study of 72 Patients with Severe Combined Immunodeficiency: Clinical and Laboratory Features and Outcomes.
B-Lymphocytes
/ immunology
Female
Hematopoietic Stem Cell Transplantation
/ adverse effects
Humans
Infant
Kaplan-Meier Estimate
Killer Cells, Natural
/ immunology
Male
Retrospective Studies
Severe Combined Immunodeficiency
/ genetics
T-Lymphocytes
/ immunology
Treatment Outcome
Turkey
/ epidemiology
Hematopoietic stem cell transplantaion (HSCT)
Severe combined immunodeficiency (SCID)
clinical features
outcomes
Journal
Journal of clinical immunology
ISSN: 1573-2592
Titre abrégé: J Clin Immunol
Pays: Netherlands
ID NLM: 8102137
Informations de publication
Date de publication:
10 2021
10 2021
Historique:
received:
14
09
2020
accepted:
06
05
2021
pubmed:
12
6
2021
medline:
22
2
2022
entrez:
11
6
2021
Statut:
ppublish
Résumé
Severe combined immunodeficiency is an inborn error of immunity characterized by impairments in the numbers and functions of T and B lymphocytes due to various genetic causes, and if it remains untreated, patients succumb to infections during the first 2 years of life. This study reported retrospective data from 72 infants diagnosed with SCID including their major clinical features, HSCT characteristics, and outcomes over a 20-year period (1997-2017). Sixty-one of 72 SCID patients in the study underwent HSCT from 1997 to 2017. Median ages at the time of diagnosis and transplantation were 3.5 months and 5 months, respectively. Consanguinity was present in 68% of the patients, and T - B - NK + phenotype was predominantly identified. The overall survival was 80.3% over a 20-year period. However, the patients transplanted during an active infection had a lower survival rate of 73.9% compared to 100% for patients transplanted infection-free or with a previous infection that had resolved. The survival rate was significantly higher among recipients of HLA-identical transplants (92.9%), compared to recipients of mismatched related transplants (70%). The overall survival increased from 50 (1997-2006) to 85% (2007-2017) during the last 10 years. This is one of the largest single-center studies in Turkey with extensive experience about SCID patients. Early diagnosis of SCID patients before the onset of an infection and early transplantation are shown to be extremely important factors affecting the outcome and increasing the survival regardless of the donor type based on the results of this study.
Identifiants
pubmed: 34114123
doi: 10.1007/s10875-021-01062-y
pii: 10.1007/s10875-021-01062-y
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1563-1573Informations de copyright
© 2021. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.
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