ArticleJournal of clinical immunology2011
Disseminated BCG infection mimicking metastatic nasopharyngeal carcinoma in an immunodeficient child with a novel hypomorphic NEMO mutation.
Article in Journal of clinical immunology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 20 citations in OpenAlex.
- Pediatric ectodermal dysplasia with immunodeficiency caused by a hemizygousFrontiers in immunology · 2026Review
- Clinical relevance of loss-of-function mutations ofGenes & diseases · 2025Article
- Time Course of Conical Teeth in Anhidrotic Ectodermal Dysplasia with Immunodeficiency.Journal of clinical immunology · 2022Article
- TheScience signaling · 2020Article
- Bacille Calmette-Guerin Complications in Newly Described Primary Immunodeficiency Diseases: 2010-2017.Frontiers in immunology · 2018Review
- Article
- Transplantation from a symptomatic carrier sister restores host defenses but does not prevent colitis in NEMO deficiency.Clinical immunology (Orlando, Fla.) · 2016Article
- Inherited and acquired immunodeficiencies underlying tuberculosis in childhood.Immunological reviews · 2015Review
- Defective lymphoid organogenesis underlies the immune deficiency caused by a heterozygous S32I mutation in IκBα.The Journal of experimental medicine · 2015Article
- Successful hematopoietic cell transplantation in patients with unique NF-κB essential modulator (NEMO) mutations.Bone marrow transplantation · 2014Article
- 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).Journal of clinical immunology · 2014Article
- Bacillus Calmette-Guérin (BCG) complications associated with primary immunodeficiency diseases.The Journal of infection · 2012Review
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Authors and funding
15 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNuclear factor-κB essential modulator (NEMO) deficiency is a developmental and immunological disorder. The genetic and phenotypic correlation has been described.
methodsWe report a unique clinical presentation and the identification of a novel missense mutation in the NEMO gene in a 3-year-old boy with bacillus Calmette-Guerin (BCG) infection.
resultsThe patient presented with fever, cervical lymphadenopathy, and abnormal anti-Epstein-Barr virus (EBV) antibody titers, suggestive of EBV-related diseases including chronic active EBV infection, X-linked lymphoproliferative syndrome, or nasopharyngeal carcinoma. Although the biopsy specimen from a nasopharyngeal lesion was initially diagnosed as squamous cell carcinoma, this was changed to disseminated BCG infection involving the nasopharynx, multiple systemic lymph nodes, and brain. A novel mutation (designated D311E) in the NEMO gene, located in the NEMO ubiquitin-binding (NUB) domain, was identified as the underlying cause of the immunodeficiency. Impaired immune responses which are characteristic of patients with NEMO deficiency were demonstrated. The patient underwent successful unrelated bone marrow transplantation at 4.9 years of age.
conclusionThis study suggests the importance of the NUB domain in host defense against mycobacteria. The unique presenting features in our patient indicate that a hypomorphic NEMO mutation can be associated with atypical pathological findings of the epithelial tissues in patients with BCG infection.
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