SCHULZ , Ansgar

Mutations in the ARPC1B isoform component of human actin-related protein 2/3 complex have been recently associated with an inborn error of immunity characterized by combined immunodeficiency, allergies, autoinflammation, and platelet abnormalities. Currently, indications on the management of this novel disease and information on its outcome are...

An understanding of natural killer (NK) cell physiology in acute myeloid leukemia (AML) has led to the use of NK cell transfer in patients, demonstrating promising clinical results. However, AML is still characterized by a high relapse rate and poor overall survival. In addition to conventional NKs that can be considered the innate counterparts...

Recently, a novel syndrome of combined immunodeficiency, allergy, and "auto"inflammation caused by mutations in the ARPC1B gene has been reported. Analysis of patient-derived hematopoietic cells has shown a defect in actin polymerization, which resulted in a wide range of clinical manifestations and immunologic-hematologic features. We report...