Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin Lesions

• Published in: Cell reports (Cambridge) Vol. 31; no. 6; p. 107633
• Main Authors: Martin-Fernandez, Marta, Bravo García-Morato, María, Gruber, Conor, Murias Loza, Sara, Malik, Muhammad Nasir Hayat, Alsohime, Fahad, Alakeel, Abdullah, Valdez, Rita, Buta, Sofija, Buda, Guadalupe, Marti, Marcelo A., Larralde, Margarita, Boisson, Bertrand, Feito Rodriguez, Marta, Qiu, Xueer, Chrabieh, Maya, Al Ayed, Mohammed, Al Muhsen, Saleh, Desai, Jigar V., Ferre, Elise M.N., Rosenzweig, Sergio D., Amador-Borrero, Blanca, Bravo-Gallego, Luz Yadira, Olmer, Ruth, Merkert, Sylvia, Bret, Montserrat, Sood, Amika K., Al-rabiaah, Abdulkarim, Temsah, Mohamad Hani, Halwani, Rabih, Hernandez, Michelle, Pessler, Frank, Casanova, Jean-Laurent, Bustamante, Jacinta, Lionakis, Michail S., Bogunovic, Dusan
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 12.05.2020
• Subjects: Alleles; Case-Control Studies; Child; Child, Preschool; Cytokines - deficiency; Cytokines - genetics; Cytokines - immunology; Dermatitis - genetics; Dermatitis - immunology; Dermatitis - pathology; endothelial cells; Female; HEK293 Cells; Humans; inborn errors of immunity; Infant; Interferon Type I - immunology; ISG15; keratinocytes; Male; Mendelian susceptibility to mycobacterial disease; Mutation; myeloid cells; Myeloid Cells - immunology; Myeloid Cells - pathology; Necrosis; Pedigree; Skin - pathology; skin inflammation; type I interferonopathy; Ubiquitins - deficiency; Ubiquitins - genetics; Ubiquitins - immunology; USP18; endothelial cells; myeloid cells; type I interferonopathy; ISG15; inborn errors of immunity; keratinocytes; USP18; Mendelian susceptibility to mycobacterial disease; skin inflammation

Most monogenic disorders have a primary clinical presentation. Inherited ISG15 deficiency, however, has manifested with two distinct presentations to date: susceptibility to mycobacterial disease and intracranial calcifications from hypomorphic interferon-II (IFN-II) production and excessive IFN-I r...