IKK-related genetic diseases: probing NF-κB functions in humans and other matters

Diagnosis and Treatment in Anhidrotic Ectodermal Dysplasia with Immunodeficiency

(2015) Tomoki Kawai et al.   ALLERGOLOGY INTERNATIONAL

A nonsense mutation in IKBKB causes combined immunodeficiency

(2014) T. Mousallem et al.   BLOOD

Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ

(2014) Siobhan O. Burns et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Immunodeficiency Associated with a Nonsense Mutation of IKBKB

(2014) Christian Nielsen et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Novel NFKB2 Mutation in Early-Onset CVID

(2014) Yiwen Liu et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Combined Immune Deficiency in a Patient with a Novel NFKB2 Mutation

(2014) Andrew W. Lindsley et al.   JOURNAL OF CLINICAL IMMUNOLOGY

A172: Metaphyseal Chondrodysplasia, Ectodermal Dysplasia, Short Stature, Hypergammaglobulinemia, and Spontaneous Inflammation Without Infections in an Extended Family Due to Mutation in NFKB1A

(2014) Edward J. Oberle et al.   Arthritis & Rheumatology

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

Diverse roles of the ubiquitin system in NF-κB activation

(2013) Kazuhiro Iwai   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

The IκB kinase complex in NF-κB regulation and beyond

(2013) Michael Hinz et al.   EMBO REPORTS

Insight intoIKBKG/NEMOLocus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease

(2013) Matilde Immacolata Conte et al.   HUMAN MUTATION

Tumor Necrosis Factor Receptor Signaling in Keratinocytes Triggers Interleukin-24-Dependent Psoriasis-like Skin Inflammation in Mice

(2013) Snehlata Kumari et al.   IMMUNITY

Anhidrotic ectodermal dysplasia: A new mutation

(2013) Gabriella Giancane et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Autosomal Dominant Anhidrotic Ectodermal Dysplasia with Immunodeficiency Caused by a Novel NFKBIA Mutation, p.Ser36Tyr, Presents with Mild Ectodermal Dysplasia and Non-Infectious Systemic Inflammation

(2013) Takakazu Yoshioka et al.   JOURNAL OF CLINICAL IMMUNOLOGY

A Novel Gain-of-Function IKBA Mutation Underlies Ectodermal Dysplasia with Immunodeficiency and Polyendocrinopathy

(2013) Lena F. Schimke et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Deficiency of Innate and Acquired Immunity Caused by an IKBKB Mutation

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

Phosphorylation of Dishevelled by Protein Kinase RIPK4 Regulates Wnt Signaling

(2013) X. Huang et al.   SCIENCE

Exome Sequence Identifies RIPK4 as the Bartsocas- Papas Syndrome Locus

(2011) Karen Mitchell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in RIPK4 Cause the Autosomal-Recessive Form of Popliteal Pterygium Syndrome

(2011) Ersan Kalay et al.   AMERICAN JOURNAL OF HUMAN GENETICS

 Np63 Versatilely Regulates a Broad NF- B Gene Program and Promotes Squamous Epithelial Proliferation, Migration, and Inflammation

(2011) X. Yang et al.   CANCER RESEARCH

A rapid screening method to detect autosomal-dominant ectodermal dysplasia with immune deficiency syndrome

(2011) Hidenori Ohnishi et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Non-canonical NF-κB signaling pathway

(2010) Shao-Cong Sun   CELL RESEARCH

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

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

“Without Ub I am nothing”: NEMO as a multifunctional player in ubiquitin-mediated control of NF-κB activation

(2010) Jérémie Gautheron et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Immune deficiency caused by impaired expression of nuclear factor-κB essential modifier (NEMO) because of a mutation in the 5′ untranslated region of the NEMO gene

(2010) Jana L. Mooster et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

MutantCHUKand Severe Fetal Encasement Malformation

(2010) Jenni Lahtela et al.   NEW ENGLAND JOURNAL OF MEDICINE

Molecular aspects of hypohidrotic ectodermal dysplasia

(2009) Marja L. Mikkola   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Shared Principles in NF-κB Signaling

(2008) Matthew S. Hayden et al.   CELL

A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency

(2008) Eduardo Lopez-Granados et al.   HUMAN MUTATION