X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene

C Lagresle-Peyrou, S Luce, F Ouchani… - Journal of Allergy and …, 2016 - Elsevier
Background We investigated 7 male patients (from 5 different families) presenting with
profound lymphopenia, hypogammaglobulinemia, fluctuating monocytopenia and
neutropenia, a poor immune response to vaccine antigens, and increased susceptibility to
bacterial and varicella zoster virus infections. Objective We sought to characterize the
genetic defect involved in a new form of X-linked immunodeficiency. Methods We performed
genetic analyses and an exhaustive phenotypic and functional characterization of the …