Associated Papers
Clinical relevance of loss-of-function mutations of NEMO/IKBKG.
Wang J et al.
Genes & Diseases, 2025
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
Genetic, immunologic, and clinical features of 830 patients with Mendelian susceptibility to mycobacterial diseases (MSMD): A systematic review.
Khavandegar A et al.
The Journal of Allergy and Clinical Immunology, 2024
Genetically programmed alternative splicing of NEMO mediates an autoinflammatory disease phenotype.
Lee Y et al.
The Journal of Clinical Investigation, 2022
An updated review on Mendelian susceptibility to mycobacterial diseases- a silver jubilee celebration of its first genetic diagnosis.
Das J et al.
Expert Review of Clinical Immunology, 2021
Life-Threatening Infections Due to Live-Attenuated Vaccines: Early Manifestations of Inborn Errors of Immunity.
Pöyhönen L et al.
Journal of Clinical Immunology, 2019
Cutaneous squamous cell carcinoma, thyroid cancer and Langerhans cell histiocytosis in a patient with X-linked recessive Mendelian susceptibility to mycobacterial diseases with a nuclear factor-κB essential modifier mutation.
Inoue Y et al.
The Journal of Dermatology, 2018
Hematopoietic stem cell transplantation for RelB deficiency.
Ovadia A et al.
The Journal of Allergy and Clinical Immunology, 2017
Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations.
Miot C et al.
Blood, 2017
Rare mendelian primary immunodeficiency diseases associated with impaired NF-κB signaling.
Paciolla M et al.
Genes and Immunity, 2015
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
Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity.
Bustamante J et al.
Seminars in Immunology, 2014
Immune diseases caused by mutations in kinases and components of the ubiquitin system.
Cohen P
Nature Immunology, 2014
Nontuberculous mycobacterial infections in children with inborn errors of the immune system.
Haverkamp MH et al.
The Journal of Infection, 2014
Diagnosis and treatment in anhidrotic ectodermal dysplasia with immunodeficiency.
Kawai T et al.
Allergology International : Official Journal of the Japanese Society of Allergology, 2012
Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases.
Bustamante J et al.
Annals of the New York Academy of Sciences, 2011
Immune defects in active mycobacterial diseases in patients with primary immunodeficiency diseases (PIDs).
Lee WI et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2011
Disseminated BCG infection mimicking metastatic nasopharyngeal carcinoma in an immunodeficient child with a novel hypomorphic NEMO mutation.
Imamura M et al.
Journal of Clinical Immunology, 2011
New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein.
Hubeau M et al.
Blood, 2011
DARPin-assisted crystallography of the CC2-LZ domain of NEMO reveals a coupling between dimerization and ubiquitin binding.
Grubisha O et al.
Journal of Molecular Biology, 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
Structural basis for recognition of diubiquitins by NEMO.
Lo YC et al.
Molecular Cell, 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
The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases.
Al-Muhsen S et al.
The Journal of Allergy and Clinical Immunology, 2008
Inborn errors of interferon (IFN)-mediated immunity in humans: insights into the respective roles of IFN-alpha/beta, IFN-gamma, and IFN-lambda in host defense.
Zhang SY et al.
Immunological Reviews, 2008
Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations.
Fusco F et al.
Human Mutation, 2008
Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features.
Filipe-Santos O et al.
Seminars in Immunology, 2006
[Genetic predisposition and children infectious disease].
Picard C et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2006
X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production.
Filipe-Santos O et al.
The Journal of Experimental Medicine, 2006
Human disease resulting from gene mutations that interfere with appropriate nuclear factor-kappaB activation.
Orange JS et al.
Immunological Reviews, 2005
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