ArticleClinical immunology (Orlando, Fla.)2016
Transplantation from a symptomatic carrier sister restores host defenses but does not prevent colitis in NEMO deficiency.
Article in Clinical immunology (Orlando, Fla.), 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 41 citations in OpenAlex.
- Monogenic forms of inflammatory bowel disease: Genetic mechanisms, models, and clinical implications.Molecular medicine (Cambridge, Mass.) · 2026Review
- Pediatric ectodermal dysplasia with immunodeficiency caused by a hemizygousFrontiers in immunology · 2026Review
- Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia Pigmenti.Journal of clinical immunology · 2024Article
- Breaking Down Barriers: Epithelial Contributors to Monogenic IBD Pathogenesis.Inflammatory bowel diseases · 2024Review
- Understanding very early onset inflammatory bowel disease (VEOIBD) in relation to inborn errors of immunity.Immunological reviews · 2024Review
- Clinical Features and Genetic Analysis of Taiwanese Primary Immunodeficiency Patients with Prolonged Diarrhea and Monogenetic Inflammatory Bowel Disease.Journal of clinical immunology · 2023Article
- Linking Genetic Diagnosis to Therapeutic Approach in Very Early Onset Inflammatory Bowel Disease: Pharmacologic Considerations.Paediatric drugs · 2022Review
- Low Density Granulocytes and Dysregulated Neutrophils Driving Autoinflammatory Manifestations in NEMO Deficiency.Journal of clinical immunology · 2022Article
- Genetically programmed alternative splicing of NEMO mediates an autoinflammatory disease phenotype.The Journal of clinical investigation · 2022Article
- New Insights and Advances in Pathogenesis and Treatment of Very Early Onset Inflammatory Bowel Disease.Frontiers in pediatrics · 2022Review
- Dysregulated inflammasome activity in intestinal inflammation - Insights from patients with very early onset IBD.Frontiers in immunology · 2022Review
- Progressive B cell depletion in human MALT1 deficiency.Clinical and experimental immunology · 2021Article
- An infant with X-linked anhidrotic ectodermal dysplasia with immunodeficiency presenting withClinical case reports · 2021Article
- Primary Immunodeficiency Disease Mimicking Pediatric Bechet's Disease.Children (Basel, Switzerland) · 2021Review
- T Cell Impairment Is Predictive for a Severe Clinical Course in NEMO Deficiency.Journal of clinical immunology · 2020Article
- Genetics on early onset inflammatory bowel disease: An update.Genes & diseases · 2020Review
- Gastrointestinal Disorders Associated with Primary Immunodeficiency Diseases.Clinical reviews in allergy & immunology · 2019Review
- Infliximab therapy for inflammatory colitis in an infant with NEMO deficiency.Immunologic research · 2019Article
- Article
- Autoimmunity/inflammation in a monogenic primary immunodeficiency cohort.Clinical & translational immunology · 2017Article
Corrections and comments
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Authors and funding
13 authors at 6 institutions in 2 countries.
Funding
Abstract
NF-κB essential modulator (NEMO) deficiency causes ectodermal dysplasia with immunodeficiency in males, while manifesting as incontinentia pigmenti in heterozygous females. We report a family with NEMO deficiency, in which a female carrier displayed skewed X-inactivation favoring the mutant NEMO allele associated with symptoms of Behçet's disease. Hematopoietic stem cell transplantation of an affected boy from this donor reconstituted an immune system with retained skewed X-inactivation. After transplantation no more severe infections occurred, indicating that an active wild-type NEMO allele in only 10% of immune cells restores host defense. Yet he developed inflammatory bowel disease (IBD). While gut infiltrating immune cells stained strongly for nuclear p65 indicating restored NEMO function, this was not the case in intestinal epithelial cells - in contrast to cells from conventional IBD patients. These results extend murine observations that epithelial NEMO-deficiency suffices to cause IBD. High anti-TNF doses controlled the intestinal inflammation and symptoms of Behçet's disease.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.