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

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

doi:10.1016/j.clim.2023.109844

Clinical Immunology

2023

DOI: 10.1016/j.clim.2023.109844

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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

Qiling Xu,

Wenyan Li,

Qian Zhao

et al.

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2024

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Cited by 2 publications

References 31 publications

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Nucleotide metabolism, leukodystrophies, and CNS pathology

Gavazzi,

Gonzalez,

Arnold

et al. 2024

J of Inher Metab Disea

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The balance between a protective and a destructive immune response can be precarious, as exemplified by inborn errors in nucleotide metabolism. This class of inherited disorders, which mimics infection, can result in systemic injury and severe neurologic outcomes. The most common of these disorders is Aicardi Goutières syndrome (AGS). AGS results in a phenotype similar to “TORCH” infections (Toxoplasma gondii, Other [Zika virus (ZIKV), human immunodeficiency virus (HIV)], Rubella virus, human Cytomegalovirus [HCMV], and Herpesviruses), but with sustained inflammation and ongoing potential for complications. AGS was first described in the early 1980s as familial clusters of “TORCH” infections, with severe neurology impairment, microcephaly, and basal ganglia calcifications (Aicardi & Goutières, Ann Neurol, 1984;15:49–54) and was associated with chronic cerebrospinal fluid (CSF) lymphocytosis and elevated type I interferon levels (Goutières et al., Ann Neurol, 1998;44:900–907). Since its first description, the clinical spectrum of AGS has dramatically expanded from the initial cohorts of children with severe impairment to including individuals with average intelligence and mild spastic paraparesis. This broad spectrum of potential clinical manifestations can result in a delayed diagnosis, which families cite as a major stressor. Additionally, a timely diagnosis is increasingly critical with emerging therapies targeting the interferon signaling pathway. Despite the many gains in understanding about AGS, there are still many gaps in our understanding of the cell‐type drivers of pathology and characterization of modifying variables that influence clinical outcomes and achievement of timely diagnosis.

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Nucleotide metabolism, leukodystrophies, and CNS pathology

Gavazzi,

Gonzalez,

Arnold

et al. 2024

J of Inher Metab Disea

View full text Add to dashboard Cite

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Successful treatment with tofacitinib in a child diagnosed with ISG15 deficiency

Murias Loza,

Courel Del Río,

Pardo Campo

et al. 2024

Clinical Immunology

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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

Cited by 2 publications

References 31 publications

Nucleotide metabolism, leukodystrophies, and CNS pathology

Nucleotide metabolism, leukodystrophies, and CNS pathology

Successful treatment with tofacitinib in a child diagnosed with ISG15 deficiency

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