Ontology highlight
ABSTRACT:
SUBMITTER: Martin-Fernandez M
PROVIDER: S-EPMC7331931 | biostudies-literature | 2020 May
REPOSITORIES: biostudies-literature
Martin-Fernandez Marta M Bravo García-Morato María M Gruber Conor C Murias Loza Sara S Malik Muhammad Nasir Hayat MNH Alsohime Fahad F Alakeel Abdullah A Valdez Rita R Buta Sofija S Buda Guadalupe G Marti Marcelo A MA Larralde Margarita M Boisson Bertrand B Feito Rodriguez Marta M Qiu Xueer X Chrabieh Maya M Al Ayed Mohammed M Al Muhsen Saleh S Desai Jigar V JV Ferre Elise M N EMN Rosenzweig Sergio D SD Amador-Borrero Blanca B Bravo-Gallego Luz Yadira LY Olmer Ruth R Merkert Sylvia S Bret Montserrat M Sood Amika K AK Al-Rabiaah Abdulkarim A Temsah Mohamad Hani MH Halwani Rabih R Hernandez Michelle M Pessler Frank F Casanova Jean-Laurent JL Bustamante Jacinta J Lionakis Michail S MS Bogunovic Dusan D
Cell reports 20200501 6
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. Herein, we describe five new patients with six novel ISG15 mutations presenting with ...[more]