Associated Papers
Clinical relevance of loss-of-function mutations of NEMO/IKBKG.
Wang J et al.
Genes & Diseases, 2025
Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical and Genetic Features of 32 Iranian Patients.
Mahdaviani SA et al.
Journal of Clinical Immunology, 2020
Recruitment of A20 by the C-terminal domain of NEMO suppresses NF-κB activation and autoinflammatory disease.
Zilberman-Rudenko J et al.
Proceedings of the National Academy of Sciences of the United States of America, 2016
EDA-ID and IP, two faces of the same coin: how the same IKBKG/NEMO mutation affecting the NF-κB pathway can cause immunodeficiency and/or inflammation.
Fusco F et al.
International Reviews of Immunology, 2015
Diagnosis and treatment in anhidrotic ectodermal dysplasia with immunodeficiency.
Kawai T et al.
Allergology International : Official Journal of the Japanese Society of Allergology, 2012
The zinc finger domain of IKKγ (NEMO) protein in health and disease.
Shifera AS
Journal of Cellular and Molecular Medicine, 2010
Impaired priming and activation of the neutrophil NADPH oxidase in patients with IRAK4 or NEMO deficiency.
Singh A et al.
Journal of Immunology (baltimore, Md. : 1950), 2009
Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity.
Hanson EP et al.
The Journal of Allergy and Clinical Immunology, 2008
Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations.
Fusco F et al.
Human Mutation, 2008
NF-kappaB-related genetic diseases.
Courtois G et al.
Cell Death and Differentiation, 2006
Characteristics of mycobacterial infection in patients with immunodeficiency and nuclear factor-kappaB essential modulator mutation, with or without ectodermal dysplasia.
Dai YS et al.
Journal of the American Academy of Dermatology, 2004
The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation.
Orange JS et al.
The Journal of Allergy and Clinical Immunology, 2004
Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations.
Orange JS et al.
The Journal of Clinical Investigation, 2002
Pathologic Findings in NEMO Deficiency: A Surgical and Autopsy Survey.
Huppmann AR et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0