دورية أكاديمية
Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin Lesions
| العنوان: | Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin Lesions |
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| المؤلفون: | 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 Adrian, 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 Marilyn, Pessler, Frank, Casanova, Jean Laurent, Bustamante, Jacinta, Lionakis, Michail S., Bogunovic, Dusan |
| بيانات النشر: | Elsevier |
| المجموعة: | CONICET Digital (Consejo Nacional de Investigaciones Científicas y Técnicas) |
| مصطلحات موضوعية: | ENDOTHELIAL CELLS, INBORN ERRORS OF IMMUNITY, ISG15, KERATINOCYTES, MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE, MYELOID CELLS, SKIN INFLAMMATION, TYPE I INTERFERONOPATHY, USP18, https://purl.org/becyt/ford/1.6Test, https://purl.org/becyt/ford/1Test |
| الوصف: | 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 skin lesions who were managed for dermatologic disease. Cellularly, we denote striking specificity to the IFN-I response, which was previously assumed to be universal. In peripheral blood, myeloid cells display the most robust IFN-I signatures. In the affected skin, IFN-I signaling is observed in the keratinocytes of the epidermis, endothelia, and the monocytes and macrophages of the dermis. These findings define the specific cells causing circulating and dermatologic inflammation and expand the clinical spectrum of ISG15 deficiency to dermatologic presentations as a third phenotype co-dominant to the infectious and neurologic manifestations. ; Fil: Martin Fernandez, Marta. Icahn School Of Medicine At Mount Sinai; Estados Unidos. King Saud University; Arabia Saudita ; Fil: Bravo García Morato, María. Instituto de Investigacion del Hospital de la Paz.; España ; Fil: Gruber, Conor. Icahn School Of Medicine At Mount Sinai; Estados Unidos. King Saud University; Arabia Saudita ; Fil: Murias Loza, Sara. Instituto de Investigacion del Hospital de la Paz.; España ; Fil: Malik, Muhammad Nasir Hayat. Twincore; Alemania. University Of Lahore; Países Bajos. Leibniz Universitat Hannover; Alemania. Helmholtz Gemeinschaft; Alemania ; Fil: Alsohime, Fahad. King Saud University; Arabia Saudita ; Fil: Alakeel, Abdullah. King Saud University; Arabia Saudita ; Fil: Valdez, Rita. Gobierno de la Ciudad Autónoma de Buenos Aires. Hospital General de Agudos Doctor Cosme Argerich; Argentina ; Fil: Buta, Sofija. Icahn School Of Medicine At Mount ... |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 2211-1247 |
| العلاقة: | info:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/pii/S2211124720305866Test; http://hdl.handle.net/11336/182810Test; Martin Fernandez, Marta; Bravo García Morato, María; Gruber, Conor; Murias Loza, Sara; Malik, Muhammad Nasir Hayat; et al.; Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin Lesions; Elsevier; Cell Reports; 31; 6; 5-2020; 1-23; CONICET Digital; CONICET |
| الإتاحة: | https://doi.org/10.1016/j.celrep.2020.107633Test http://hdl.handle.net/11336/182810Test |
| حقوق: | info:eu-repo/semantics/openAccess ; https://creativecommons.org/licenses/by-nc-nd/2.5/arTest/ |
| رقم الانضمام: | edsbas.80E56F26 |
| قاعدة البيانات: | BASE |
| تدمد: | 22111247 |
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