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

Clinical immunology (Orlando, Fla.) - 1 Dec 2023

Xu Qiling, Li Wenyan, Zhao Qian, Zhao Lu, Lv Ge, Sun Gan, Gao Yelei, Ding Yuan, Zhang Zhiyong, Zhou Lina, Chen Yongwen, Tang Xuemei, Zhu Jin, Zhao Xiaodong, An Yunfei

Abstract excerpt

PURPOSE: Interferon-stimulated gene 15 (ISG15) deficiency, a rare human inborn error of immunity characterized by susceptibility to Bacillus Calmette-Guerin (BCG) diseases, neuropathic and dermatological manifestations. METHODS: The clinical and immunological features of two siblings with ISG15 deficiency combined with asymptomatic myeloperoxidase (MPO) mutations were analyzed, and their pathogenesis, as well as...

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PMID: 37984483
DOI: 10.1016/j.clim.2023.109844

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