Modi et al. review how primary atopic disorders, a group of monogenic inborn errors of immunity, reveal fundamental mechanisms regulating allergic inflamma

The mechanisms underlying thymic dysfunction in the 22q11.2 deletion syndrome are poorly defined. In this study, Hennings et al. integrated spatial transcr

Lodi et al. report leniolisib use, a PI3Kδ inhibitor approved for APDS, in a teenager with protein kinase C δ deficiency and progressive multiorgan immune

The authors present their practical guide to diagnosis and treatment of chronic granulomatous disease, including the first comprehensive clinical protocol

This Review provides an overview of the discoveries, origins, and complexities of CD21lo B cells, and how studying inborn errors of immunity can provide a

Key PointsTLR8 GOF is an X-linked dominant disease that should be considered in both male and female patients with cytopenia and immune dysregulation.Patie

There are 30+ papers published on NOD2-autoinflammatory (Yao) syndrome. However, approximately one in five people is heterozygous for Yao-associated varian

Three studies in this issue of JHI extend our understanding of the genetic, molecular, and clinical characteristics of human disease associated with a gain