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 …

An increasing number of primary immunodeficiencies (PIDs) have been identified over the
last decade, which are caused by deleterious mutations in genes encoding for proteins …

Ezrin, radixin and moesin proteins (ERMs) are plasma membrane (PM) organizers that link
the actin cytoskeleton to the cytoplasmic tail of transmembrane proteins, many of which are …

Inherited defects in genes encoding for proteins that are involved in the assembly and
dynamics of the actin skeleton have increasingly been identified in patients presenting with …

Background We investigated the molecular etiology of a young male proband with confirmed
immunodeficiency of unknown cause, presenting with recurrent bacterial and Varicella …

Background We investigated two brothers who presented with repeated lung infections after
6 months of age. Lymphocytes and neutrophils were significantly decreased, and both had …

Megakaryoblastic leukemia 1 (MKL1) deficiency is one of the most recently discovered
primary immunodeficiencies (PIDs) caused by cytoskeletal abnormalities. These …

The ezrin–radixin–moesin (ERM) proteins are a family of membrane-associated proteins
that link membrane proteins with actin filaments in the cell cortex and regulate many cellular …

Here, we present the findings of an investigation involving two male siblings with juvenile
total tooth loss, early-onset chronic leg ulcers, and autoimmune thyroiditis, as well as focal …

New primary immunodeficiency diseases: context and future : Current Opinion in Pediatrics
New primary immunodeficiency diseases: context and future : Current Opinion in Pediatrics …