Mild B-cell lymphocytosis in patients with a CARD11 C49Y mutation

David Buchbinder; Jeffrey R Stinson; Diane J Nugent; Lucie Heurtier; Felipe Suarez; Gauthaman Sukumar; Clifton L Dalgard; Cécile Masson; Mélanie Parisot; Yu Zhang; Helen F Matthews; Helen C Su; Anne Durandy; Alain Fischer; Sven Kracker; Andrew L Snow

doi:10.1016/j.jaci.2015.03.008

Mild B-cell lymphocytosis in patients with a CARD11 C49Y mutation

J Allergy Clin Immunol. 2015 Sep;136(3):819-821.e1. doi: 10.1016/j.jaci.2015.03.008. Epub 2015 Apr 28.

Authors

Affiliations

¹ Department of Hematology, Children's Hospital of Orange County, Orange, Calif; Department of Pediatrics, University of California at Irvine, Orange, Calif.
² Department of Pharmacology, Uniformed Services University of the Health Sciences, Bethesda, Md.
³ Université Paris Descartes, Sorbonne Paris Cité, Imagine Institute, Paris, France; INSERM UMR 1163, Human Lymphohematopoiesis Laboratory, Paris, France.
⁴ Université Paris Descartes, Sorbonne Paris Cité, Imagine Institute, Paris, France; Service d'Hématologie Adultes, Hôpital Necker-Enfants Malades, Paris, France.
⁵ Department of Anatomy, Physiology, & Genetics, Uniformed Services University of the Health Sciences, Bethesda, Md.
⁶ Bioinformatic Platform, Université Paris Descartes, Sorbonne Paris Cité, Imagine Institute, Paris, France.
⁷ Genomic Core Facility, Université Paris Descartes, Sorbonne Paris Cité, Imagine Institute, Paris, France.
⁸ Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
⁹ Université Paris Descartes, Sorbonne Paris Cité, Imagine Institute, Paris, France; INSERM UMR 1163, Human Lymphohematopoiesis Laboratory, Paris, France; Department of Pediatric Immunology, Hematology and Rheumatology, Hôpital Necker Enfants Malades, Paris, France; Collège de France, Paris, France.
¹⁰ Université Paris Descartes, Sorbonne Paris Cité, Imagine Institute, Paris, France; INSERM UMR 1163, Human Lymphohematopoiesis Laboratory, Paris, France. Electronic address: [email protected].
¹¹ Department of Pharmacology, Uniformed Services University of the Health Sciences, Bethesda, Md. Electronic address: [email protected].

Abstract

Three new BENTA patients sharing the same novel, autosomal dominant gain-of-function missense mutation in CARD11 (C49Y) provide new insight into the progression of this disorder from childhood to adulthood.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
B-Lymphocytes / immunology*
B-Lymphocytes / pathology
CARD Signaling Adaptor Proteins / genetics*
CARD Signaling Adaptor Proteins / immunology
Cell Proliferation
DNA Mutational Analysis
Female
Guanylate Cyclase / genetics*
Guanylate Cyclase / immunology
Humans
Immunologic Memory
Lymphocytosis / congenital
Lymphocytosis / genetics*
Lymphocytosis / immunology
Lymphocytosis / pathology
Lymphoproliferative Disorders / congenital
Lymphoproliferative Disorders / genetics*
Lymphoproliferative Disorders / immunology
Lymphoproliferative Disorders / pathology
Male
Middle Aged
Mutation, Missense*
Severity of Illness Index

Substances

CARD Signaling Adaptor Proteins
CARD11 protein, human
Guanylate Cyclase

Abstract

Publication types

MeSH terms

Substances

Grants and funding