Disease: NEMO mutation with immunodeficiency
- A 7-month-old boy with breathing problems
- Case Report: Analysis of Preserved Umbilical Cord Clarified X-Linked Anhidrotic Ectodermal Dysplasia With Immunodeficiency in Deceased, Undiagnosed Uncles
- Ciliary and immune dysfunctions and their genetic background in patients with non-cystic fibrosis bronchiectasis in Central Iran
- Clinical Features and Genetic Analysis of Taiwanese Primary Immunodeficiency Patients with Prolonged Diarrhea and Monogenetic Inflammatory Bowel Disease
- Correlating interleukin-12 stimulated interferon-gamma production and the absence of ectodermal dysplasia and anhidrosis (EDA) in patients with mutations in NF-kappaB essential modulator (NEMO)
- Correlating interleukin-12 stimulated interferon-γ production and the absence of ectodermal dysplasia and anhidrosis (EDA) in patients with mutations in NF-κB essential modulator (NEMO)
- Critical Roles of NF-κB Signaling Molecules in Bone Metabolism Revealed by Genetic Mutations in Osteopetrosis
- Decreased expression in nuclear factor-kappaB essential modulator due to a novel splice-site mutation causes X-linked ectodermal dysplasia with immunodeficiency
- Decreased expression in nuclear factor-κB essential modulator due to a novel splice-site mutation causes X-linked ectodermal dysplasia with immunodeficiency
- Defective nuclear IKKα function in patients with ectodermal dysplasia with immune deficiency
- Defects of the Innate Immune System and Related Immune Deficiencies
- Eight years of follow-up experience in children with mendelian susceptibility to mycobacterial disease and review of the literature
- Genetically programmed alternative splicing of NEMO mediates an autoinflammatory disease phenotype
- Hypohidrotic ectodermal dysplasia, osteopetrosis, lymphedema, and immunodeficiency in an infant with multiple opportunistic infections
- IKBKG (NEMO) 5' Untranslated Splice Mutations Lead to Severe, Chronic Disseminated Mycobacterial Infections
- Inborn errors of immunity associated with characteristic phenotypes
- Interferon-gamma reduces the proliferation of M. tuberculosis within macrophages from a patient with a novel hypomorphic NEMO mutation
- Liquid phase separation of NEMO induced by polyubiquitin chains activates NF-κB
- Low Density Granulocytes and Dysregulated Neutrophils Driving Autoinflammatory Manifestations in NEMO Deficiency
- Management of COVID-19 pneumonia in a child with NEMO deficiency
- Medical dental collaboration: quality, cost effective health care
- NEMO-NDAS: A Panniculitis in the Young Representing an Autoinflammatory Disorder in Disguise
- Primary Immunodeficiency Disease Mimicking Pediatric Bechet's Disease
- Rare Presentations of Epstein-Barr Virus--Associated Smooth Muscle Tumor in Children
- Reccurent mycobacterial diseases in patients with impaired axis IL-12/INF-gamma
- Rifampicin-resistant Mycobacterium bovis BCG strain isolated from an infant with NEMO mutation
- Skin and Mucosal Manifestations in NEMO Syndrome: A Case Series and Literature Review
- The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation
- Update on autoinflammatory diseases