Early B cell developmental impairment with progressive B cell deficiency in NFKB2 mutated CVID disease without autoimmunity

Vassilios Lougaris; Daniele Moratto; Manuela Baronio; Tiziana Lorenzini; Stefano Rossi; Luisa Gazzurelli; Maria Pia Bondioni; Alessandro Plebani

doi:10.1016/j.clim.2018.11.014

Early B cell developmental impairment with progressive B cell deficiency in NFKB2 mutated CVID disease without autoimmunity

Clin Immunol. 2019 Aug:205:153-155. doi: 10.1016/j.clim.2018.11.014. Epub 2018 Nov 28.

Authors

Vassilios Lougaris¹, Daniele Moratto², Manuela Baronio³, Tiziana Lorenzini³, Stefano Rossi³, Luisa Gazzurelli³, Maria Pia Bondioni⁴, Alessandro Plebani³

Affiliations

¹ Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, Spedali Civili di Brescia, Italy. Electronic address: [email protected].
² Institute for Molecular Medicine A. Nocivelli, Department of Pathology, Laboratory of Genetic Disorders of Childhood, Department of Molecular and Translational Medicine, University of Brescia, Spedali Civili di Brescia, Italy.
³ Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, Spedali Civili di Brescia, Italy.
⁴ Pediatric Radiology, University of Brescia and ASST Spedali Civili di Brescia, Brescia, Italy.

PMID: 30500415
DOI: 10.1016/j.clim.2018.11.014

Abstract

This study provides evidence for a novel role for NFKB2 in human B cell development in the bone marrow and in the periphery, leading to progressive peripheral B cell deficiency not always combined with autoimmune phenomena, broadening thus the clinical spectrum of NFKB2 mutated CVID disease and implying an essential role for NFKB2 in early human B cell development.

Keywords: Autoimmunity; B cells; Bone marrow; CVID; NFKB2.

Publication types

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

MeSH terms

Adult
B-Lymphocytes / immunology
Common Variable Immunodeficiency / genetics*
Common Variable Immunodeficiency / immunology
Frameshift Mutation
Humans
Lymphopoiesis / genetics*
Male
NF-kappa B p52 Subunit / genetics*
Precursor Cells, B-Lymphoid / immunology*

Substances

NF-kappa B p52 Subunit
NFKB2 protein, human