Frontiers in immunology · 2025
Case Report: Novel UNC93B1 variant causes rheumatoid arthritis and interstitial pneumonia.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
He Tingyan, Ou Junbin, Huang Lijuan, Zhou Xinyi, Wang Linlin, Li Xiaolin, Yang Jun
Аннотация
BACKGROUND: UNC93B1 is a transmembrane protein essential for regulating toll-like receptors (TLRs). Pathogenic variants in human UNC93B1 have recently been described in a limited number of patients with childhood systemic lupus erythematosus and chilblain lupus.
METHODS: Demographic data, medical history, and physical examination findings were obtained. Whole-exome sequencing and Sanger sequencing were performed. The interferon-stimulated gene (ISG) score was analyzed.
RESULTS: We report four patients with a novel UNC93B1 c.1007G>A p.R336H variant, including three presenting with juvenile arthritis or rheumatoid arthritis, and one with a predominant phenotype of ITP. In addition to arthritis, these patients presented with interstitial pneumonia as the dominant feature. ISG expression analysis during active disease revealed overexpression of IFN-stimulated cytokine genes and an elevated ISG score in P4. To date, 25 cases with UNC93B1 pathogenic mutations have been reported, including 13 with childhood-onset systemic lupus erythematosus (SLE) and 12 with cutaneous lupus. Management of these patients has varied based on clinical manifestations.
CONCLUSION: UNC93B1-mutation-associated disease should be considered in the context of early-onset autoimmune disease, especially childhood-onset SLE, juvenile arthritis, and rheumatoid arthritis. Pulmonary involvement should also be monitored in these patients.
METHODS: Demographic data, medical history, and physical examination findings were obtained. Whole-exome sequencing and Sanger sequencing were performed. The interferon-stimulated gene (ISG) score was analyzed.
RESULTS: We report four patients with a novel UNC93B1 c.1007G>A p.R336H variant, including three presenting with juvenile arthritis or rheumatoid arthritis, and one with a predominant phenotype of ITP. In addition to arthritis, these patients presented with interstitial pneumonia as the dominant feature. ISG expression analysis during active disease revealed overexpression of IFN-stimulated cytokine genes and an elevated ISG score in P4. To date, 25 cases with UNC93B1 pathogenic mutations have been reported, including 13 with childhood-onset systemic lupus erythematosus (SLE) and 12 with cutaneous lupus. Management of these patients has varied based on clinical manifestations.
CONCLUSION: UNC93B1-mutation-associated disease should be considered in the context of early-onset autoimmune disease, especially childhood-onset SLE, juvenile arthritis, and rheumatoid arthritis. Pulmonary involvement should also be monitored in these patients.