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PubMed | McGill University, Study Center for Primary Immunodeficiencies, University of Lyon, University of Paris Pantheon Sorbonne and 8 more.
Type: Journal Article | Journal: The Journal of allergy and clinical immunology | Year: 2016

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.We sought to characterize the genetic defect involved in a new form of X-linked immunodeficiency.We performed genetic analyses and an exhaustive phenotypic and functional characterization of the lymphocyte compartment.We observed hemizygous mutations in the moesin (MSN) gene (located on the X chromosome and coding for MSN) in all 7 patients. Six of the latter had the same missense mutation, which led to an amino acid substitution (R171W) in the MSN four-point-one, ezrin, radixin, moesin domain. The seventh patient had a nonsense mutation leading to a premature stop codon mutation (R533X). The naive T-cell counts were particularly low for age, and most CD8Our observations establish a causal link between an ezrin-radixin-moesin protein mutation and a primary immunodeficiency that could be referred to as X-linked moesin-associated immunodeficiency.

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