ArticleThe Journal of allergy and clinical immunology2011
Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia.
Article in The Journal of allergy and clinical immunology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
22 citing papers in PubMed, 41 citations in OpenAlex.
- Evaluating Pediatric Reference Ranges for Extended Immunophenotyping from a Finnish Cohort against Published References.Journal of clinical immunology · 2025Review
- Cartilage-hair hypoplasia: A comprehensive review.Journal of human immunity · 2025Review
- Analyzing the role of ferroptosis in ribosome-related bone marrow failure disorders: From pathophysiology to potential pharmacological exploitation.IUBMB life · 2024Review
- Shorter birth length and decreased T-cell production and function predict severe infections in children with non-severe combined immunodeficiency cartilage-hair hypoplasia.The journal of allergy and clinical immunology. Global · 2024Article
- M6A RNA methylation-mediated RMRP stability renders proliferation and progression of non-small cell lung cancer through regulating TGFBR1/SMAD2/SMAD3 pathway.Cell death and differentiation · 2023Article
- A disease-linked lncRNA mutation in RNase MRP inhibits ribosome synthesis.Nature communications · 2022Article
- Gain-of-function defects in toll-like receptor 8 shed light on the interface between immune system and bone marrow failure disorders.Frontiers in immunology · 2022Review
- Lymphomas in cartilage-hair hypoplasia - A case series of 16 patients reveals advanced stage DLBCL as the most common form.Frontiers in immunology · 2022Article
- Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report.Frontiers in immunology · 2022Article
- Immunity and Genetics at the Revolving Doors of Diagnostics in Primary Immunodeficiencies.Diagnostics (Basel, Switzerland) · 2021Article
- Abnormal Newborn Screening Follow-up for Severe Combined Immunodeficiency in an Amish Cohort with Cartilage-Hair Hypoplasia.Journal of clinical immunology · 2020Article
- The human long non-coding RNA gene RMRP has pleiotropic effects and regulates cell-cycle progression at G2.Scientific reports · 2019Article
- Lymphocyte Apoptosis and FAS Expression in Patients with 22q11.2 Deletion Syndrome.Journal of clinical immunology · 2019Article
- A Wide Spectrum of Autoimmune Manifestations and Other Symptoms Suggesting Immune Dysregulation in Patients With Cartilage-Hair Hypoplasia.Frontiers in immunology · 2018Article
- Analysis of clinical and immunologic phenotype in a large cohort of children and adults with cartilage-hair hypoplasia.The Journal of allergy and clinical immunology · 2017Article
- Diverse Autoantibody Reactivity in Cartilage-Hair Hypoplasia.Journal of clinical immunology · 2017Article
- Immunodeficiencies Associated with Abnormal Newborn Screening for T Cell and B Cell Lymphopenia.Journal of clinical immunology · 2017Review
- Cartilage-hair hypoplasia: follow-up of immunodeficiency in two patients.Journal of clinical immunology · 2014Article
- Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia.Human molecular genetics · 2014Article
- Powering the immune system: mitochondria in immune function and deficiency.Journal of immunology research · 2014Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 8 institutions in 4 countries.
Funding
Abstract
backgroundCartilage-hair hypoplasia (CHH) is characterized by metaphyseal dysplasia, bone marrow failure, increased risk of malignancies, and a variable degree of immunodeficiency. CHH is caused by mutations in the RNA component of the mitochondrial RNA processing (RMRP) endoribonuclease gene, which is involved in ribosomal assembly, telomere function, and cell cycle control.
objectivesWe aimed to define thymic output and characterize immune function in a cohort of patients with molecularly defined CHH with and without associated clinical immunodeficiency.
methodsWe studied the distribution of B and T lymphocytes (including recent thymic emigrants), in vitro lymphocyte proliferation, cell cycle, and apoptosis in 18 patients with CHH compared with controls.
resultsPatients with CHH have a markedly reduced number of recent thymic emigrants, and their peripheral T cells show defects in cell cycle control and display increased apoptosis, resulting in poor proliferation on activation.
conclusionThese data confirm that RMRP mutations result in significant defects of cell-mediated immunity and provide a link between the cellular phenotype and the immunodeficiency in CHH.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.