'Germline hemizygous loss-of-function mutations affecting the actin regulator DOCK11 were shown to cause a previously unknown inborn error of hematopoiesis and immunity characterized by severe immune dysregulation and systemic inflammation, recurrent infections, and anemia.'
#Immunology #humanimmunology

https://www.nejm.org/doi/full/10.1056/NEJMoa2210054?query=featured_home