MHC Class II Deficiency: Clinical, Immunological, and Genetic Insights in a Large Multicenter Cohort

Basit Öğe Kaydı
dc.authorscopusidVedat Uygun / 10043117000
dc.authorwosidVedat Uygun / AGH-4534-2022
dc.contributor.authorKöksal, Zeynep Güleç
dc.contributor.authorEltan, Sevgi Bilgi
dc.contributor.authorTopyıldız, Ezgi
dc.contributor.authorUygun, Vedat
dc.date.accessioned2025-04-18T10:15:30Z
dc.date.available2025-04-18T10:15:30Z
dc.date.issued2024
dc.departmentİstinye Üniversitesi, Rektörlük, Temel Bilimler Bölümü
dc.description.abstractBackground: Major histocompatibility complex class II deficiency, a combined immunodeficiency, results from loss of HLA class II expression on antigen-presenting cells. Currently, hematopoietic stem cell transplantation stands as the sole curative approach, although factors influencing patient outcomes remain insufficiently explored. Objectives: To elucidate the clinical, immunologic, and genetic profiles associated with MHC-II deficiency and identify prognostic indicators that affect survival rates. Methods: In this multicenter retrospective analysis, we gathered data from 35 patients with a diagnosis of MHC-II deficiency across 12 centers in Turkey. We recorded infection histories, gene mutations, immune cell subsets, and surface MHC-II expression on blood cells. We conducted survival analyses to evaluate the impact of various factors on patient outcomes. Results: Predominant symptoms observed were pneumonia (n = 29; 82.9%), persistent diarrhea (n = 26; 74.3%), and severe infections (n = 26; 74.3%). The RFXANK gene mutation (n = 9) was the most frequent, followed by mutations in RFX5 (n = 8), CIITA (n = 4), and RFXAP (n = 2) genes. Patients with RFXANK mutations presented with later onset and diagnosis compared with those with RFX5 mutations (P =.0008 and .0006, respectively), alongside a more significant diagnostic delay (P = .020). A notable founder effect was observed in five patients with a specific RFX5 mutation (c.616G>C). The overall survival rate for patients was 28.6% (n = 10), showing a significantly higher proportion in individuals with hematopoietic stem cell transplantation (n = 8; 80%). Early death and higher CD8+ T-cell counts were observed in patients with the RFX5 mutations compared with RFXANK-mutant patients (P = .006 and .009, respectively). Conclusions: This study delineates the genetic and clinical panorama of MHC-II deficiency, emphasizing the prevalence of specific gene mutations such as RFXANK and RFX5. These insights facilitate early diagnosis and prognosis refinement, significantly contributing to the management of MHC-II deficiency. © 2024 American Academy of Allergy, Asthma & Immunology
dc.identifier.citationKoksal, Z. G., Eltan, S. B., Topyildiz, E., Sezer, A., Keles, S., Celik, F. C., ... & Baris, S. (2024). MHC Class II Deficiency: Clinical, Immunological, and Genetic Insights in a Large Multicenter Cohort. The Journal of Allergy and Clinical Immunology: In Practice, 12(9), 2490-2502.
dc.identifier.doi10.1016/j.jaip.2024.06.046
dc.identifier.endpage2502
dc.identifier.issn22132198
dc.identifier.issue9
dc.identifier.scopus2-s2.0-85203056719
dc.identifier.scopusqualityQ1
dc.identifier.startpage2490
dc.identifier.urihttp://dx.doi.org/10.1016/j.jaip.2024.06.046
dc.identifier.urihttps://hdl.handle.net/20.500.12713/7008
dc.identifier.volume12
dc.identifier.wosWOS:001317976300001
dc.identifier.wosqualityQ1
dc.indekslendigikaynakScopus
dc.indekslendigikaynakWeb of Science
dc.institutionauthorUygun, Vedat
dc.institutionauthoridVedat Uygun / 0000-0003-3257-7798
dc.language.isoen
dc.publisherAmerican Academy of Allergy, Asthma and Immunology
dc.relation.ispartofJournal of Allergy and Clinical Immunology: In Practice
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectCD4+ T Lymphocytopenia
dc.subjectClinical Outcomes
dc.subjectCombined İmmunodeficiency
dc.subjectHematopoietic Stem Cell Transplantation
dc.subjectMHC-II Deficiency
dc.titleMHC Class II Deficiency: Clinical, Immunological, and Genetic Insights in a Large Multicenter Cohort
dc.typeArticle

Dosyalar

Lisans paketi
Listeleniyor 1 - 1 / 1
Küçük Resim Yok
İsim:
license.txt
Boyut:
1.17 KB
Biçim:
Item-specific license agreed upon to submission
Açıklama:
İndir

Koleksiyon

Temel Bilimler Bölümü Makale Koleksiyonu