MHC Class II Deficiency: Clinical, Immunological, and Genetic Insights in a Large Multicenter Cohort.
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Gulec Koksal Zeynep, Bilgic Eltan Sevgi, Topyildiz Ezgi, Sezer Ahmet, Keles Sevgi, Celebi Celik Figen, Ozhan Kont Aylin, Gemici Karaaslan Betul, Sefer Asena Pinar, Karali Zuhal, Arik Elif, Ozek Yucel Esra, Akcal Omer, Karakurt Leman Tuba, Yorgun Altunbas Melek, Yalcin Koray, Uygun Vedat, Ozek Gulcihan, Babayeva Royala, Aydogmus Cigdem, Ozcan Dilek, Cavkaytar Ozlem, Keskin Ozlem, Kilic Sara Sebnem, Kiykim Ayca, Arikoglu Tugba, Genel Ferah, Gulez Nesrin, Guner Sukru Nail, Karaca Neslihan Edeer, Reisli Ismail, Kutukculer Necil, Altintas Derya Ufuk, Ozen Ahmet, Karakoc Aydiner Elif, Baris Safa
Аннотация
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.