🔔 We're delighted to share the Abstracts from the Serbian Group for Primary Immunodeficiencies (SGPI) 2nd symposium, which took place April 24-25 in Belgrade and Novi Sad, Serbia. Explore the latest advancements in #PID clinical practice and research! 👉 hubs.la/Q04tJF1c0View quoted post on X
Conor Gruber, @BogunovicLab @KidsAtColumbia et al. identify #STAT2 mutations in a family with severe early-onset pulmonary alveolar proteinosis (PAP), a rare lung disease marked by alveolar surfactant accumulation. hubs.la/Q04pM_cP0View quoted post on X
www.theatlantic.com The Genes That Could Cancel Out a Fatal Diagnosis The key to treating genetic disease might be hidden in other “modifier” genes. 
rupress.org Functional studies in a neonate with a DOCK11 VUS guide clinical care O’Connell et al. demonstrate that negative functional studies can meaningfully guide care. In a neonate with a DOCK11 variant of uncertain significance, ne 
