Publication:
Clinical and laboratory factors affecting the prognosis of severe combined immunodeficiency

Simple item page
dc.contributor.authorÖZTÜRK, ELİF
dc.contributor.authorÖZEN, AHMET OĞUZHAN
dc.contributor.authorBARIŞ, SAFA
dc.contributor.authorAYDINER, ELİF
dc.contributor.authorsOzturk E., Catak M. C., Kiykim A., Baser D., Bilgic Eltan S., Yalcin K., Kasap N., Nain E., Bulutoglu A., Akgun G., et al.
dc.date.accessioned2023-05-08T08:06:38Z
dc.date.available2023-05-08T08:06:38Z
dc.date.issued2022-07-01
dc.description.abstractPurpose Severe combined immunodefciency (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 afecting the survival of patients. Methods 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 fow cytometry. Results 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 signifcantly 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 nontransplanted patients (p =0.001). Peripheral blood stem cell sources and genotypes other than RAG had a signifcant favorable impact on CD4+ T cells immune reconstitution after transplantation (p=0.044, p=0.035; respectively). Gender matching transplantations from human leukocyte antigen (HLA)–identical and non-identical donors and using peripheral blood stem cell source yielded higher B-cell reconstitution (p=0.002, p=0.028; respectively). Furthermore, receiving a conditioning regimen provided better B-cell reconstitution and chimerism (p = 0.003, p = 0.001). Post-transplant TCR diversity was sufcient in the patients and showed an equal distribution pattern as healthy controls. The OS rate was lower in patients who underwent transplant with active infection or received stem cells from mismatched donors (p=0.030, p=0.015; respectively). Conclusion This study identifes diagnostic and therapeutic approaches predictive of favorable outcomes for patients with SCID.
dc.identifier.citationOzturk E., Catak M. C., Kiykim A., Baser D., Bilgic Eltan S., Yalcin K., Kasap N., Nain E., Bulutoglu A., Akgun G., et al., "Clinical and Laboratory Factors Affecting the Prognosis of Severe Combined Immunodeficiency", JOURNAL OF CLINICAL IMMUNOLOGY, cilt.42, sa.5, ss.1036-1050, 2022
dc.identifier.doi10.1007/s10875-022-01262-0
dc.identifier.endpage1050
dc.identifier.issn0271-9142
dc.identifier.issue5
dc.identifier.startpage1036
dc.identifier.urihttps://pubmed.ncbi.nlm.nih.gov/35451701/
dc.identifier.urihttps://hdl.handle.net/11424/289138
dc.identifier.volume42
dc.language.isoeng
dc.relation.ispartofJOURNAL OF CLINICAL IMMUNOLOGY
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectYaşam Bilimleri
dc.subjectTemel Bilimler
dc.subjectLife Sciences
dc.subjectNatural Sciences
dc.subjectİmmünoloji
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectIMMUNOLOGY
dc.subjectLife Sciences (LIFE)
dc.subjectGenel İmmünoloji ve Mikrobiyoloji
dc.subjectImmunology
dc.subjectGeneral Immunology and Microbiology
dc.subjectSevere combined immunodeficiency
dc.subjectBone marrow transplantation
dc.subjectImmune reconstitution
dc.subjectT-cell receptor repertoire
dc.subjectPrognosis
dc.subjectSTEM-CELL TRANSPLANTATION
dc.subjectIMMUNE RECONSTITUTION
dc.subjectBONE-MARROW
dc.subjectCHILDREN
dc.subjectSURVIVAL
dc.subjectOUTCOMES
dc.subjectSevere combined immunodefciency
dc.subjectBone marrow transplantation
dc.subjectImmune reconstitution
dc.subjectT-cell receptor repertoire
dc.subjectPrognosis
dc.titleClinical and laboratory factors affecting the prognosis of severe combined immunodeficiency
dc.typearticle
dspace.entity.typePublication
local.avesis.id1f8ab6bf-8da4-4414-9b93-9eff67a7ca74
local.indexed.atWOS
local.indexed.atPUBMED
local.indexed.atSCOPUS
relation.isAuthorOfPublication21f5369f-7135-47d2-bf97-a976070dde4d
relation.isAuthorOfPublication3e9c297b-e636-4836-8f61-dc9c8b7c29cf
relation.isAuthorOfPublication5b392475-f11d-44b3-b251-4fe8e6b7dbb9
relation.isAuthorOfPublication787c2629-584b-4b3e-9850-bf85838f2973
relation.isAuthorOfPublication.latestForDiscovery21f5369f-7135-47d2-bf97-a976070dde4d

Files

Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
5.pdf
Size:
1.91 MB
Format:
Adobe Portable Document Format
Download

Collections

Research Outputs