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

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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Bibliographic Details
Main Authors: Mojca Železnik, Aneta Soltirovska Šalamon, Maruša Debeljak, Aleš Goropevšek, Nataša Šuštar, Damjana Ključevšek, Alojz Ihan, Tadej Avčin
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-01-01
Series:Frontiers in Immunology
Subjects:
Aicardi–Goutières syndrome (AGS)
IFIH1 gene
interferonopathy
Janus kinase inhibitor
combined immune deficiency
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2022.1033513/full

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