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

Daniel F. R. Boehmer, Lisa M. Koehler, Thomas Magg, Philipp Metzger, Meino Rohlfs, Julia Ahlfeld, Anita Rack-Hoch, Karl Reiter, Michael H. Albert, Stefan Endres, Simon Rothenfußer, Christoph Klein, Lars M. Koenig, Fabian Hauck

2020The Journal of Allergy and Clinical Immunology In Practice28 citationsDOIOpen Access PDF

Topics & Concepts

Hemophagocytic lymphohistiocytosisMedicineSevere combined immunodeficiencyImmunodeficiencyImmunologyPrimary immunodeficiencyGeneticsGenePathologyBiologyImmune systemDiseaseImmunodeficiency and Autoimmune DisordersAutoimmune and Inflammatory Disorders ResearchImmune Cell Function and Interaction
A Novel Complete Autosomal-Recessive STAT1 LOF Variant Causes Immunodeficiency with Hemophagocytic Lymphohistiocytosis–Like Hyperinflammation | Litcius