A Novel Complete Autosomal-Recessive STAT1 LOF Variant Causes Immunodeficiency with Hemophagocytic Lymphohistiocytosis–Like Hyperinflammation

BACKGROUND: Complete signal transducer and activator of transcription 1 (STAT1) deficiency causes a rare primary immunodeficiency that is characterized by defective IFN-dependent gene expression leading to life-threatening viral and mycobacterial infections early in life. OBJECTIVE: To characterize...

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Detalles Bibliográficos
Autores principales: Boehmer, Daniel F.R., Koehler, Lisa M., Magg, Thomas, Metzger, Philipp, Rohlfs, Meino, Ahlfeld, Julia, Rack-Hoch, Anita, Reiter, Karl, Albert, Michael H., Endres, Stefan, Rothenfusser, Simon, Klein, Christoph, Koenig, Lars M., Hauck, Fabian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Academy of Allergy, Asthma & Immunology 2020
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9188869/
https://www.ncbi.nlm.nih.gov/pubmed/32603902
http://dx.doi.org/10.1016/j.jaip.2020.06.034

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