Case report: Pneumocystis jirovecii pneumonia in a severe case of Aicardi–Goutières syndrome with an IFIH1 gain-of-function mutation mimicking combined immunodeficiency

Aicardi–Goutières syndrome (AGS) is a genetically determined early-onset progressive encephalopathy caused by mutations leading to overexpression of type I interferon (IFN) and resulting in various clinical phenotypes. A gain-of-function (GOF) mutation in the IFIH1 gene is associated with robust pro...

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Detalles Bibliográficos
Autores principales: Železnik, Mojca, Soltirovska Šalamon, Aneta, Debeljak, Maruša, Goropevšek, Aleš, Šuštar, Nataša, Ključevšek, Damjana, Ihan, Alojz, Avčin, Tadej
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9846174/
https://www.ncbi.nlm.nih.gov/pubmed/36685504
http://dx.doi.org/10.3389/fimmu.2022.1033513

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