ArticleFrontiers in immunology2019
A 30-Year Prospective Follow-Up Study Reveals Risk Factors for Early Death in Cartilage-Hair Hypoplasia.
Article in Frontiers in immunology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
What it found
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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.
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Who cites it
23 citing papers in PubMed, 39 citations in OpenAlex.
- The Safety and Efficacy of Live Viral Vaccines in Patients With Cartilage-Hair Hypoplasia.Frontiers in immunology · 2020Trial
- Perinatal outcomes in 35 children with cartilage hair hypoplasia.Orphanet journal of rare diseases · 2026Article
- Cartilage-hair hypoplasia: A comprehensive review.Journal of human immunity · 2025Review
- Molecular characterization of endosomal self RNA Rmrp-engaged TLR3 dimerization to prime innate activation.Cell research · 2025Article
- RMRP variants inhibit the cell cycle checkpoints pathway in cartilage‑hair hypoplasia.Molecular medicine reports · 2025Article
- Validation of Risk Factors for Early Mortality in Cartilage-Hair Hypoplasia.Journal of clinical immunology · 2024Article
- Altered oral microbiome, but normal human papilloma virus prevalence in cartilage-hair hypoplasia patients.Orphanet journal of rare diseases · 2024Article
- 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
- Hirschsprung disease.Nature reviews. Disease primers · 2023Review
- Infections in Inborn Errors of Immunity with Combined Immune Deficiency: A Review.Pathogens (Basel, Switzerland) · 2023Review
- Reduced Intensity Conditioning Allogeneic Transplant for SCID Associated with Cartilage Hair Hypoplasia.Journal of clinical immunology · 2022Article
- 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
- Review
- Cartilage-hair Hypoplasia Complicated with Liver Cirrhosis Due to Chronic Intrahepatic Cholestasis.Internal medicine (Tokyo, Japan) · 2021Article
- Pulmonary Follow-Up Imaging in Cartilage-Hair Hypoplasia: a Prospective Cohort Study.Journal of clinical immunology · 2021Article
- RMRP, RMST, FTX and IPW: novel potential long non-coding RNAs in medullary thyroid cancer.Orphanet journal of rare diseases · 2021Article
- Long Non-coding RNA RMRP in the Pathogenesis of Human Disorders.Frontiers in cell and developmental biology · 2021Review
- Functioning and equality according to International Classification of Functioning, Disability and Health (ICF) in people with skeletal dysplasia compared to matched control subjects - a cross-sectional survey study.BMC musculoskeletal disorders · 2020Article
- Outcomes of 42 pregnancies in 14 women with cartilage-hair hypoplasia: a retrospective cohort study.Orphanet journal of rare diseases · 2020Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
Abstract
Cartilage-hair hypoplasia (CHH) is a skeletal dysplasia with combined immunodeficiency, variable clinical course and increased risk of malignancy. Management of CHH is complicated by a paucity of long-term follow-up data, as well as knowledge on prognostic factors. We assessed clinical course and risk factors for mortality in a prospective cohort study of 80 patients with CHH recruited in 1985-1991 and followed up until 2016. For all patients we collected additional health information from health records and from the national Medical Databases and Cause-of-death Registry. The primary outcome was immunodeficiency-related death, including death from infections, lung disease and malignancy. Standardized mortality ratios (SMRs) were calculated using national mortality rates as reference. Half of the patients (57%,
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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.