Journal ArticleDOI
Wiskott-Aldrich syndrome: a comprehensive review.
TLDR
The absence of functional WASp leads to a severe clinical phenotype that can result in death if not diagnosed and treated early in life, and the treatment of choice with the best outcome is hematopoietic stem cell transplantation.Abstract:
Wiskott-Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency characterized by microthrombocytopenia, eczema, recurrent infections, and an increased incidence of autoimmunity and malignancies. The disease is caused by mutations in the WAS gene expressed exclusively in hematopoietic cells. WAS protein (WASp) is a multidomain protein that exists in complex with several partners that play important roles in its function. WASp belongs to a family of proteins that relay signals from the surface of the cell to the actin cytoskeleton. Mutations in the WAS gene have various effects on the level of WASp, which, in turn, correlates with the severity of the disease. In addition to WAS, mutations in the WAS gene can result in the mild variant X-linked thrombocytopenia, or in X-linked neutropenia, characterized by neutropenia with myelodysplasia. The absence of functional WASp leads to a severe clinical phenotype that can result in death if not diagnosed and treated early in life. The treatment of choice with the best outcome is hematopoietic stem cell transplantation, preferably from a matched related donor.read more
Citations
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Human serum albumin homeostasis: a new look at the roles of synthesis, catabolism, renal and gastrointestinal excretion, and the clinical value of serum albumin measurements.
TL;DR: Clinically, reduced CP appears to be a result rather than a cause of ill-health, and therapy designed to increase CP has limited benefit, while the ubiquitous occurrence of hypoalbuminemia in disease states limits the diagnostic utility of the CP measurement.
Journal ArticleDOI
Nuclear ARP2/3 drives DNA break clustering for homology-directed repair.
Benjamin R. Schrank,Tomas Aparicio,Yinyin Li,Wakam Chang,Brian T. Chait,Gregg G. Gundersen,Max E. Gottesman,Jean Gautier +7 more
TL;DR: It is demonstrated that nuclear actin polymerization is required for the migration of a subset of double-strand breaks into discrete sub-nuclear clusters and shapes chromatin organization by generating repair domains that are essential for homology-directed repair in eukaryotic cells.
Journal ArticleDOI
Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease
Walter H. A. Kahr,Fred G. Pluthero,Abdul Elkadri,Neil Warner,Marko Drobac,Chang Hua Chen,Richard W. Lo,Ling Li,Ren Li,Qi Li,Cornelia Thoeni,Jie Pan,Gabriella Leung,Irene Lara-Corrales,Ryan Murchie,Ernest Cutz,Ronald M. Laxer,Julia Upton,Chaim M. Roifman,Rae S. M. Yeung,John H. Brumell,Aleixo M. Muise +21 more
TL;DR: The findings suggest that ARPC1 isoforms are not functionally interchangeable, and is associated with haematopoietic/immune symptoms affecting cell lineages where this isoform predominates.
Journal ArticleDOI
The multiple faces of leukocyte interstitial migration.
Tim Lämmermann,Ronald N. Germain +1 more
TL;DR: An overview of both in vitro and in vivo studies highlights recent progress in understanding the molecular and biophysical mechanisms that shape robust leukocyte migration responses in physiologically complex and heterogeneous environments.
Journal ArticleDOI
Cellular functions of WASP family proteins at a glance.
TL;DR: Insight is provided into new functions of WASP family proteins from regulating the biogenesis of autophagosomes to recently identified roles in the nucleus, as well as their mechanisms of regulation and emerging functions within the cell.
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