Clinical and Laboratory Factors Affecting the Prognosis of Severe Combined Immunodeficiency.
Bone marrow transplantation
Immune reconstitution
Prognosis
Severe combined immunodeficiency
T-cell receptor repertoire
Journal
Journal of clinical immunology
ISSN: 1573-2592
Titre abrégé: J Clin Immunol
Pays: Netherlands
ID NLM: 8102137
Informations de publication
Date de publication:
07 2022
07 2022
Historique:
received:
01
11
2021
accepted:
28
03
2022
pubmed:
23
4
2022
medline:
27
8
2022
entrez:
22
4
2022
Statut:
ppublish
Résumé
Severe combined immunodeficiency (SCID) is one of the most severe forms of inborn errors of immunity characterized by absence or loss of function in T cells. The long-term outcomes of all forms of SCID have been evaluated in a limited number of studies. We aimed to evaluate the pre- and post-transplant manifestations of SCID patients and determine the factors affecting the survival of patients. We included 54 SCID patients (classical SCID, Omenn syndrome, atypical SCID (AS)) in this study. We evaluated the clinical presentation, infections, and outcome of hematopoietic stem cell transplantation (HSCT). Lymphocyte subsets and T-cell receptor (TCR) repertoire were analyzed by flow cytometry. The median age at diagnosis was 5 (range: 3-24) months and follow-up time was 25 (range: 5-61) months. Symptom onset and diagnostic ages were significantly higher in AS compared to others (p = 0.001; p < 0.001). The most common SCID phenotype was T-B-NK + , and mutations in recombination-activating genes (RAG1/2) were the prominent genetic defect among patients. The overall survival (OS) rate was 83.3% after HSCT, higher than in non-transplanted patients (p = 0.001). Peripheral blood stem cell sources and genotypes other than RAG had a significant favorable impact on CD4 This study identifies diagnostic and therapeutic approaches predictive of favorable outcomes for patients with SCID.
Identifiants
pubmed: 35451701
doi: 10.1007/s10875-022-01262-0
pii: 10.1007/s10875-022-01262-0
doi:
Substances chimiques
Receptors, Antigen, T-Cell
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1036-1050Subventions
Organisme : Marmara Üniversitesi
ID : SAG-C-TUP-250919-0288
Commentaires et corrections
Type : ErratumIn
Informations de copyright
© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.
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