Abstract The Wiskott-Aldrich syndrome (WAS) is a rare X-linked disorder originally described
by Dr. Alfred Wiskott in 1937 and Dr. Robert Aldrich in 1954 as a familial disease …

Wiskott–Aldrich Syndrome (WAS) is a severe X-linked Primary Immunodeficiency that affects
1–10 out of 1 million male individuals. WAS is caused by mutations in the WAS Protein …

Abstract Patients with Wiskott–Aldrich syndrome (WAS) lacking a human leukocyte antigen-
matched donor may benefit from gene therapy through the provision of gene-corrected …

ARPC1B is a key factor for the assembly and maintenance of the ARP2/3 complex that is
involved in actin branching from an existing filament. Germline biallelic mutations in …

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 …

The importance of the cytoskeleton in mounting a successful immune response is evident
from the wide range of defects that occur in actin‐related primary immunodeficiencies (PID …

Spectacular progress has been made in the characterization of human hyper-IgE syndrome
(HIES) over the last 50 years. HIES is a primary immunodeficiency defined as an association …

Immunoactinopathies caused by mutations in actin‐related proteins are a growing group of
inborn errors of immunity (IEI). Immunoactinopathies are caused by a dysregulated actin …

Wiskott–Aldrich syndrome is a life-threatening primary immunodeficiency associated with a
bleeding tendency, eczema and a high incidence of autoimmunity and malignancy. Stem …

Revertant mosaicism is a naturally occurring phenomenon involving spontaneous correction
of a pathogenic mutation in a somatic cell. Recent studies suggest that it is not a rare event …