Inflammatory cutaneous lesions and pulmonary manifestations in a new patient with autosomal recessive ISG15 deficiency case report

Overview of attention for article published in Allergy, Asthma & Clinical Immunology, September 2020

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Identification of a Novel Interferon-Stimulated (ISG15) Gene Variant Associated With Inflammatory Cutaneous Lesions and Zinc Deficiency in a Unique Family: A Case Series and Literature Review

Article in Cureus (December 2023)

Case Report: ISG15 deficiency caused by novel variants in two families and effective treatment with Janus kinase inhibition

Article in Frontiers in Immunology (December 2023)

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

Article in Clinical Immunology (November 2023)

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