Article
Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin Lesions.
Cell reports - 12 May 2020
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
Abstract excerpt
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 response, respectively. Accordingly, these patients were managed for their infectious and neurologic complications....
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