A novel homozygous Y140X mutation of ISG15 causes diverse type I interferonopathies in sibling patients with cutaneous lesions or recurrent parenchymal pneumonia

CONCLUSIONS: We report two sibling patients harboring the same novel ISG15 mutation showing diverse clinical features, and one harbored a rare phenotype of pneumonia. These findings expand the clinical spectrum of ISG15 deficiency and identify baricitinib as therapeutic candidate.PMID:37984483 | DOI:10.1016/j.clim.2023.109844

Source: Clinical Immunology - November 20, 2023 Category: Allergy & Immunology Authors: Qiling Xu Wenyan Li Qian Zhao Lu Zhao Ge Lv Gan Sun Yelei Gao Yuan Ding Zhiyong Zhang Lina Zhou Yongwen Chen Xuemei Tang Jin Zhu Xiaodong Zhao Yunfei An Source Type: research