The most recent updated classification of inborn errors of immunity/primary
immunodeficiencies, compiled by the International Union of Immunological Societies Expert …

Monogenic autoinflammatory diseases are a group of rheumatologic disorders caused by
dysregulation in the innate immune system. The molecular mechanisms of these disorders …

We report the updated classification of inborn errors of immunity, compiled by the
International Union of Immunological Societies Expert Committee. This report documents the …

Dynamic rearrangement of the actin cytoskeleton drives a myriad of processes in eukaryotic
cells, such as cell migration and vesicle trafficking, and its dysregulation is deeply …

Translational reprogramming is a fundamental layer of immune regulation, but how such a
global regulatory mechanism operates remains largely unknown. Here we perform a genetic …

A growing number of monogenic immune-mediated diseases have been related to genes
involved in pathways of actin cytoskeleton remodeling. Increasing evidences associate …

It is important to recognize the broad clinical manifestations of PIRD as patients may have
symptoms atypical of classical 'immunodeficiency'. Because of their diverse immune …

Abstract Proteins of the Wiskott-Aldrich syndrome protein (WASP) family play a central role
in regulating actin cytoskeletal dynamics in a wide range of cellular processes. Genetic …

Background Prospective genetic evaluation of patients at our referral research hospital
presents clinical research challenges. Objective This study sought not only a single-gene …

The actin cytoskeleton is composed of dynamic filament networks that build adaptable local
architectures to sustain nearly all cellular activities in response to a myriad of stimuli …