NF-κB1 Haploinsufficiency Causing Immunodeficiency and EBV-Driven Lymphoproliferation

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

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

Combined immunodeficiency with CD4 lymphopenia and sclerosing cholangitis caused by a novel loss-of-function mutation affecting IL21R

(2015) B. Erman et al.   HAEMATOLOGICA

Combined immunodeficiency with CD4 lymphopenia and sclerosing cholangitis caused by a novel loss-of-function mutation affecting IL21R

(2015) B. Erman et al.   HAEMATOLOGICA

Identification of Genes for Childhood Heritable Diseases

(2014) Kym M. Boycott et al.   Annual Review of Medicine

Autosomal-dominant B-cell deficiency with alopecia due to a mutation in NFKB2 that results in nonprocessable p100

(2014) C. E. Lee et al.   BLOOD

NF-κB pathways in hematological malignancies

(2014) Chiara Gasparini et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Early-onset inflammatory bowel disease and common variable immunodeficiency–like disease caused by IL-21 deficiency

(2014) Elisabeth Salzer et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Interleukin-2-Inducible T-Cell Kinase (ITK) Deficiency - Clinical and Molecular Aspects

(2014) Sujal Ghosh et al.   JOURNAL OF CLINICAL IMMUNOLOGY

A human immunodeficiency caused by mutations in the PIK3R1 gene

(2014) Marie-Céline Deau et al.   JOURNAL OF CLINICAL INVESTIGATION

Heterozygous splice mutation inPIK3R1causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K

(2014) Carrie L. Lucas et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations

(2014) Desirée Schubert et al.   NATURE MEDICINE

Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4

(2014) H. S. Kuehn et al.   SCIENCE

Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity

(2014) Katharina L. Willmann et al.   Nature Communications

Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency

(2014) Waleed Al-Herz et al.   Frontiers in Immunology

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

X-linked inhibitor of apoptosis (XIAP) deficiency: The spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis

(2013) C. Speckmann et al.   CLINICAL IMMUNOLOGY

Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency

(2013) Carrie L Lucas et al.   NATURE IMMUNOLOGY

Deficiency of Innate and Acquired Immunity Caused by an IKBKB Mutation

(2013) Ulrich Pannicke et al.   NEW ENGLAND JOURNAL OF MEDICINE

Phosphoinositide 3-Kinase   Gene Mutation Predisposes to Respiratory Infection and Airway Damage

(2013) I. Angulo et al.   SCIENCE

The phenotype of human STK4 deficiency

(2012) H. Abdollahpour et al.   BLOOD

Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27

(2012) E. Salzer et al.   HAEMATOLOGICA

NF-κB in immunobiology

(2011) Matthew S Hayden et al.   CELL RESEARCH

Crosstalk in NF-κB signaling pathways

(2011) Andrea Oeckinghaus et al.   NATURE IMMUNOLOGY

A single NFκB system for both canonical and non-canonical signaling

(2010) Vincent Feng-Sheng Shih et al.   CELL RESEARCH

Regulation and Function of NF-κB Transcription Factors in the Immune System

(2009) Sivakumar Vallabhapurapu et al.   Annual Review of Immunology

B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans

(2009) K. Warnatz et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Nuclear factor-κB1: Regulation and function

(2007) Silvia Gaspar Pereira et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY