Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation.

doi:10.1016/j.jaci.2013.01.042

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Article

Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation.

The Journal of allergy and clinical immunology - 1 Jun 2013

Moshous Despina, Martin Emmanuel, Carpentier Wassila, Lim Annick, Callebaut Isabelle, Canioni Danielle, Hauck Fabian, Majewski Jacek, Schwartzentruber Jeremy, Nitschke Patrick, Sirvent Nicolas, Frange Pierre, Picard Capucine, Blanche Stéphane, Revy Patrick, Fischer Alain, Latour Sylvain, Jabado Nada, de Villartay Jean-Pierre

Abstract excerpt

BACKGROUND: Primary immunodeficiencies are a rare group of inborn diseases characterized by a broad clinical and genetic heterogeneity. Substantial advances in the identification of the underlying molecular mechanisms can be achieved through the study of patients with increased susceptibility to specific infections and immune dysregulation. We evaluated 3 siblings from a consanguineous family presenting with...

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PMID: 23522482
DOI: 10.1016/j.jaci.2013.01.042

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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