Novel STAT1 Gain-of-Function Mutation Presenting as Combined Immunodeficiency

@DrLindaDykes Primary immunodeficiency? Rare, serious, and treatable if diagnosed. We have had adults presenting to their GP ~70 times over a period of 3 years, before a hospital physician checked their antibodies - completely absent. It's not just babies

Novel STAT1 Gain-of-Function Mutation Presenting as Combined Immunodeficiency. https://t.co/81pPC5mQvL

Novel pathogenic variant in STAT1: https://t.co/CNKdOHcDGi

Novel STAT1 Gain-of-Function Mutation Presenting as Combined Immunodeficiency. https://t.co/2D44fAeXQD