ArticleThe Journal of allergy and clinical immunology2006
Mutations in the RNA component of RNase mitochondrial RNA processing might cause Omenn syndrome.
Article in The Journal of allergy and clinical immunology, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 108 citations in OpenAlex.
- Matched unrelated bone marrow transplant for T+ combined immunodeficiency.Bone marrow transplantation · 2008Trial
- Omenn Syndrome in Two Infants with Different Hypomorphic Variants in Janus Kinase 3.Journal of clinical immunology · 2024Article
- Atopic Dermatitis-like Genodermatosis: Disease Diagnosis and Management.Diagnostics (Basel, Switzerland) · 2022Review
- Prenatal ultrasound diagnostic approach to Omenn syndrome: case reportRevista colombiana de obstetricia y ginecologia · 2021Article
- Inborn errors of immunity with atopic phenotypes: A practical guide for allergists.The World Allergy Organization journal · 2021Review
- Atopic Dermatitis and Allergic Urticaria: Cutaneous Manifestations of Immunodeficiency.Immunology and allergy clinics of North America · 2017Review
- FOXN1 deficient nude severe combined immunodeficiency.Orphanet journal of rare diseases · 2017Review
- Primary immunodeficiencies associated with eosinophilia.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2016Review
- Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations.Journal of clinical immunology · 2015Article
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- Phenotypic variations of cartilage hair hypoplasia: granulomatous skin inflammation and severe T cell immunodeficiency as initial clinical presentation in otherwise well child with short stature.Journal of clinical immunology · 2014Article
- Cartilage hair hypoplasia and celiac disease: report of an Indian girl with novel genotype.Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology · 2013Article
- The genetic basis of severe combined immunodeficiency and its variants.The application of clinical genetics · 2012Article
- Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia.The Journal of allergy and clinical immunology · 2011Article
- Do ribosomopathies explain some cases of common variable immunodeficiency?Clinical and experimental immunology · 2011Review
- Genetics of SCID.Italian journal of pediatrics · 2010Review
- Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia.BMC medical genetics · 2009Article
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- Matched unrelated bone marrow transplant for Omenn syndrome.Immunologic research · 2009Article
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Authors and funding
3 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundOmenn syndrome is a variant of severe combined immunodeficiency disease, which most prominently presents with erythroderma, eosinophilia, and susceptibility to various pathogens. Mutations in the nucleases of recombination activating genes 1 and 2 (RAG1/RAG2) or Artemis were found in some, but not all, patients with Omenn syndrome. We identified 2 patients who presented with clinical features consistent with Omenn syndrome but had no mutations in RAG or Artemis. Both patients also had cartilage-hair hypoplasia (CHH).
objectivesWe sought to define the molecular basis and characterize the features of severe combined immunodeficiency and Omenn syndrome in these patients.
methodsWe have studied humoral and cellular immunity using standard assays. T-cell repertoire was investigated by quantitating Vbeta families. The RNase mitochondrial RNA processing (RMRP) RNA gene was sequenced by using standard techniques.
resultsSequence analysis of the RMRP RNA gene showed that each patient had an insertion-duplication on one allele and a point mutation on the other allele. These point mutations were novel, and they might be related to the unusual presentation of Omenn syndrome in addition to CHH in these patients. Indeed, analysis of the thymus showed residual mature T lymphocytes. This leaky thymus might be responsible for the skewed release of some T-cell clones into the circulation, which might trigger the phenotype of Omenn syndrome.
conclusionWe have demonstrated that mutations in the RMRP RNA gene might be associated with Omenn syndrome. CLINICAL IMPLICATIONS: This discovery will aid clinicians in the early recognition and treatment of CHH-associated Omenn syndrome.
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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.