ArticleBlood2015
Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency.
Article in Blood, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 40 citations in OpenAlex.
- A novel case of autosomal recessive CARD11 loss-of-function underlying impaired antiviral immunity and a review of literature.Clinical & translational immunology · 2026Article
- Incomplete penetrance in inborn errors of immunity: A skeleton in the closet-The sequel.Journal of human immunity · 2025Review
- From syndromic clues to diagnosis: understanding CARD11-driven disorders.Frontiers in immunology · 2025Review
- Ex-Vivo TCR αβ and CD19 Depleted Haploidentical Stem Cell Transplantation with CD45RO Memory T Cell Addback for CARD11 Deficiency.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion · 2024Article
- Trends in the Epidemiology ofJournal of fungi (Basel, Switzerland) · 2023Review
- Autosomal Recessive Inflammatory Skin Disease Caused by a Novel Biallelic Loss-of-Function Variant in CARD11.Journal of clinical immunology · 2023Article
- Mistuned NF-κB signaling in lymphocytes: lessons from relevant inborn errors of immunity.Clinical and experimental immunology · 2023Article
- The role of the CBM complex in allergic inflammation and disease.The Journal of allergy and clinical immunology · 2022Review
- Revertant Mosaicism in Genodermatoses: Natural Gene Therapy Right before Your Eyes.Biomedicines · 2022Review
- Skin manifestations of inborn errors of NF-κB.Frontiers in pediatrics · 2022Review
- Inborn Errors of the Immune System Associated With Atopy.Frontiers in immunology · 2022Review
- Article
- Cellular and molecular mechanisms breaking immune tolerance in inborn errors of immunity.Cellular & molecular immunology · 2021Review
- Reversion Mosaicism in Primary Immunodeficiency Diseases.Frontiers in immunology · 2021Review
- Phenoidentical HLA-Related Hematopoietic Stem Cell Transplant Without Conditioning to Reconstitute a Patient with a Putative Loss-of-Function CARD11 Mutation.Journal of clinical immunology · 2020Article
- Immune dysregulation in patients with RAG deficiency and other forms of combined immune deficiency.Blood · 2020Review
- Human inborn errors of immunity to herpes viruses.Current opinion in immunology · 2020Review
- Somatic genetic rescue in Mendelian haematopoietic diseases.Nature reviews. Genetics · 2019Review
- Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease.The Journal of allergy and clinical immunology · 2019Article
- Bacille Calmette-Guerin Complications in Newly Described Primary Immunodeficiency Diseases: 2010-2017.Frontiers in immunology · 2018Review
Corrections and comments
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Authors and funding
19 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Omenn syndrome (OS) is a severe immunodeficiency associated with erythroderma, lymphoproliferation, elevated IgE, and hyperactive oligoclonal T cells. A restricted T-cell repertoire caused by defective thymic T-cell development and selection, lymphopenia with homeostatic proliferation, and lack of regulatory T cells are considered key factors in OS pathogenesis. We report 2 siblings presenting with cytomegalovirus (CMV) and Pneumocystis jirovecii infections and recurrent sepsis; one developed all clinical features of OS. Both carried homozygous germline mutations in CARD11 (p.Cys150*), impairing NF-κB signaling and IL-2 production. A somatic second-site mutation reverting the stop codon to a missense mutation (p.Cys150Leu) was detected in tissue-infiltrating T cells of the OS patient. Expression of p.Cys150Leu in CARD11-deficient T cells largely reconstituted NF-κB signaling. The reversion likely occurred in a prethymic T-cell precursor, leading to a chimeric T-cell repertoire. We speculate that in our patient the functional advantage of the revertant T cells in the context of persistent CMV infection, combined with lack of regulatory T cells, may have been sufficient to favor OS. This first observation of OS in a patient with a T-cell activation defect suggests that severely defective T-cell development or homeostatic proliferation in a lymphopenic environment are not required for this severe immunopathology.
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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.