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Genetic sequencing has aided in the discovery of novel mutations in inborn errors of immunity, but their clinical relevance often remains unclear

In this Research Article, Marcus Altfeld & team identify a TLR8 gene mutation causing immune overactivation and inflammation in two siblings, linking genetic change to immune system dysfunction and disease: Immunology.


14 Hamburg Center for Translational Immunology;

15 German Center for Child and Adolescent Health (DZKJ), partner site Hamburg; and.

16 Institute of Medical Microbiology, Virology and Hygiene, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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