Late-Onset Antibody Deficiency Due to Monoallelic Alterations in NFKB1

Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans

(2018) Paul Tuijnenburg et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond

(2018) Guillem de Valles-Ibáñez et al.   Frontiers in Immunology

Human NF-κB1 Haploinsufficiency and Epstein–Barr Virus-Induced Disease—Molecular Mechanisms and Consequences

(2018) Birgit Hoeger et al.   Frontiers in Immunology

NFkB mutations in humans: The devil is in the details

(2018) Manfred Fliegauf et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

NFKB1 and Cancer: Friend or Foe?

(2018) Julia Concetti et al.   Cells

Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes

(2017) Meri Kaustio et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Disturbed canonical nuclear factor of κ light chain signaling in B cells of patients with common variable immunodeficiency

(2017) Baerbel Keller et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Early and late B-cell developmental impairment in nuclear factor kappa B, subunit 1–mutated common variable immunodeficiency disease

(2017) Vassilios Lougaris et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies

(2017) Aziz Bousfiha et al.   JOURNAL OF CLINICAL IMMUNOLOGY

International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity

(2017) Capucine Picard et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Specific antibody deficiency and autoinflammatory disease extend the clinical and immunological spectrum of heterozygous NFKB1 loss-of-function mutations in humans

(2016) C. Schipp et al.   HAEMATOLOGICA

NF-κB1 Haploinsufficiency Causing Immunodeficiency and EBV-Driven Lymphoproliferation

(2016) Heidrun Boztug et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Genes associated with common variable immunodeficiency: one diagnosis to rule them all?

(2016) Delfien J A Bogaert et al.   JOURNAL OF MEDICAL GENETICS

Specific antibody deficiency and autoinflammatory disease extend the clinical and immunological spectrum of heterozygous NFKB1 loss-of-function mutations in humans

(2016) C. Schipp et al.   HAEMATOLOGICA

International Consensus Document (ICON): Common Variable Immunodeficiency Disorders

(2016) Francisco A. Bonilla et al.   Journal of Allergy and Clinical Immunology-In Practice

Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency

(2015) Manfred Fliegauf et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TNFR2 and IL-12 coactivation enables slanDCs to support NK-cell function via membrane-bound TNF-α

(2014) Dejene M. Tufa et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

Prevalence and Morbidity of Primary Immunodeficiency Diseases, United States 2001–2007

(2014) Lisa Kobrynski et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4

(2014) H. S. Kuehn et al.   SCIENCE

Germline Mutations in NFKB2 Implicate the Noncanonical NF-κB Pathway in the Pathogenesis of Common Variable Immunodeficiency

(2013) Karin Chen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The NF- B Family of Transcription Factors and Its Regulation

(2009) A. Oeckinghaus et al.   Cold Spring Harbor Perspectives in Biology

Progression of Selective IgA Deficiency to Common Variable Immunodeficiency

(2008) Asghar Aghamohammadi et al.   INTERNATIONAL ARCHIVES OF ALLERGY AND IMMUNOLOGY