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

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: sven.kracker@inserm.fr.
¹¹ Department of Pharmacology, Uniformed Services University of the Health Sciences, Bethesda, Md. Electronic address: andrew.snow@usuhs.edu.

PMID: 25930198
PMCID: PMC4562870
DOI: 10.1016/j.jaci.2015.03.008

Case Reports

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

David Buchbinder et al. J Allergy Clin Immunol. 2015 Sep.

. 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: sven.kracker@inserm.fr.
¹¹ Department of Pharmacology, Uniformed Services University of the Health Sciences, Bethesda, Md. Electronic address: andrew.snow@usuhs.edu.

PMID: 25930198
PMCID: PMC4562870
DOI: 10.1016/j.jaci.2015.03.008

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.

PubMed Disclaimer

Figures

**Figure 1. Gain-of-function missense mutation in CARD11 (C49Y) in three BENTA patients**
(A) Sanger gDNA sequencing of C49Y BENTA patients. (B) Schematic diagram of CARD11 with BENTA-associated mutations. (C) Fluorescent microscopy of CARD11-deficient JPM50.6 T cells transfected with FLAG-CARD11 constructs. White arrows indicate CARD11 aggregates. Scale bars = 5 μm. (D) Flow cytometric quantitation of κB-driven GFP reporter and immunblotting of CARD11-FLAG in transfected JPM50.6 cells. Mock = untransfected cells, EV=empty vector, WT=wild type.

See this image and copyright information in PMC

References

1. Brohl AS, Stinson JR, Su HC, Badgett T, Jennings CD, Sukumar G, et al. Germline CARD11 Mutation in a Patient with Severe Congenital B Cell Lymphocytosis. Journal of clinical immunology. 2014 Epub 2014/10/30. - PMC - PubMed
1. Snow AL, Xiao W, Stinson JR, Lu W, Chaigne-Delalande B, Zheng L, et al. Congenital B cell lymphocytosis explained by novel germline CARD11 mutations. J Exp Med. 2012;209(12):2247–61. Epub 2012/11/07. - PMC - PubMed
1. Blonska M, Lin X. NF-kappaB signaling pathways regulated by CARMA family of scaffold proteins. Cell research. 2011;21(1):55–70. Epub 2010/12/29. - PMC - PubMed
1. Turvey SE, Durandy A, Fischer A, Fung SY, Geha RS, Gewies A, et al. The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency. The Journal of allergy and clinical immunology. 2014;134(2):276–84. Epub 2014/08/05. - PMC - PubMed
1. Lenz G, Davis RE, Ngo VN, Lam L, George TC, Wright GW, et al. Oncogenic CARD11 mutations in human diffuse large B cell lymphoma. Science. 2008;319(5870):1676–9. Epub 2008/03/08. - PubMed

Publication types

Actions
Actions

MeSH terms

Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions

Save citation to file

Email citation

Add to Collections

Add to My Bibliography

Your saved search

Create a file for external citation management software

Your RSS Feed

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

Affiliations

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

Authors

Affiliations

Abstract

Figures

References

Publication types

MeSH terms

Substances

Grants and funding

LinkOut - more resources

Full Text Sources

Other Literature Sources