Common variable immunodeficiency in two kindreds with heterogeneous phenotypes caused by novel heterozygous NFKB1 mutations

Common variable immunodeficiency in two kindreds with heterogeneous phenotypes caused by novel heterozygous NFKB1 mutations

NFKB1 haploinsufficiengcy was first described in 2015 in three families with common variable immunodeficiency (CVID), presenting heterogeneously with symptoms of increased infectious susceptibility, skin lesions, malignant lymphoproliferation and autoimmunity. The described mutations all led to a ra...

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Bibliographic Details
Main Authors: Frederik Staels, Kerstin De Keukeleere, Matias Kinnunen, Salla Keskitalo, Flaminia Lorenzetti, Michiel Vanmeert, Teresa Prezzemolo, Emanuela Pasciuto, Eveline Lescrinier, Xavier Bossuyt, Margaux Gerbaux, Mathijs Willemsen, Julika Neumann, Sien Van Loo, Anniek Corveleyn, Karen Willekens, Ingeborg Stalmans, Isabelle Meyts, Adrian Liston, Stephanie Humblet-Baron, Mikko Seppänen, Markku Varjosalo, Rik Schrijvers
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-09-01
Series:Frontiers in Immunology
Subjects:
primary immunodeficiency
functional validation
novel mutation
Nfkb1 (p50)
haploinsufficiency
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2022.973543/full

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https://www.frontiersin.org/articles/10.3389/fimmu.2022.973543/full

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