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

doi:10.1016/j.jaci.2016.04.032

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Article

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

The Journal of allergy and clinical immunology - 1 Dec 2016

Lagresle-Peyrou Chantal, Luce Sonia, Ouchani Farid, Soheili Tayebeh Shabi, Sadek Hanem, Chouteau Myriam, Durand Amandine, Pic Isabelle, Majewski Jacek, Brouzes Chantal, Lambert Nathalie, Bohineust Armelle, Verhoeyen Els, Cosset François-Loïc, Magerus-Chatinet Aude, Rieux-Laucat Frédéric, Gandemer Virginie, Monnier Delphine, Heijmans Catherine, van Gijn Marielle, Dalm Virgil A, Mahlaoui Nizar, Stephan Jean-Louis, Picard Capucine, Durandy Anne, Kracker Sven, Hivroz Claire, Jabado Nada, de Saint Basile Geneviève, Fischer Alain, Cavazzana Marina, André-Schmutz Isabelle

Abstract excerpt

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....

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PMID: 27405666
DOI: 10.1016/j.jaci.2016.04.032

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