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

Article ID	Journal	Published Year	Pages	File Type
3198184	Journal of Allergy and Clinical Immunology	2013	19 Pages	PDF

Abstract

Our findings define a new clinical entity of a primary immunodeficiency with increased susceptibility to EBV-induced lymphoproliferation in patients associated with hypomorphic Coronin-1A mutation.

Keywords

FACS EBER GAPDH TCr ERK T-cell immunodeficiency PBL iNKT SCID HSCT WES ITK Whole-exome sequencing Thymus fluorescence-activated cell sorting invariant natural killer T cell invariant natural killer T peripheral blood lymphocyte MAIT SCID, Severe combined immunodeficiency Hematopoietic stem cell transplantation primary immunodeficiency Severe combined immune deficiency extracellular signal-regulated kinase glyceraldehyde-3-phosphate dehydrogenase T-cell receptor

Related Topics

Life Sciences Immunology and Microbiology Immunology

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

Authors

Despina MD, PhD, Emmanuel PhD, Wassila PhD, Annick PhD, Isabelle PhD, Danielle MD, PhD, Fabian MD, Jacek PhD, Jeremy MSc, Patrick PhD, Nicolas MD, PhD, Pierre MD, Capucine MD, PhD, Stéphane MD, Patrick PhD, Alain MD, PhD, Sylvain PhD, Nada MD, PhD,