ArticleThe journal of allergy and clinical immunology. Global2024
Shorter birth length and decreased T-cell production and function predict severe infections in children with non-severe combined immunodeficiency cartilage-hair hypoplasia.
Article in The journal of allergy and clinical immunology. Global, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 7 citations in OpenAlex.
- Perinatal outcomes in 35 children with cartilage hair hypoplasia.Orphanet journal of rare diseases · 2026Article
- First 2-year experience of nationwide newborn screening for severe forms of T and B cell immunodeficiency: 2.3 million newborns analyzed using TREC and KREC in Russia.Frontiers in immunology · 2026Article
- Cartilage-hair hypoplasia: A comprehensive review.Journal of human immunity · 2025Review
- Application of Artificial Intelligence in Inborn Errors of Immunity Identification and Management: Past, Present, and Future-A Systematic Review.Journal of clinical medicine · 2025Review
- Validation of Risk Factors for Early Mortality in Cartilage-Hair Hypoplasia.Journal of clinical immunology · 2024Article
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Cartilage-hair hypoplasia (CHH) is a syndromic inborn error of immunity caused by variants in the Objective: We described longitudinal changes in lymphocyte counts during childhood and explored correlations of early childhood clinical and laboratory features with clinical outcomes on long-term follow-up of CHH patients. Methods: Immunologic laboratory parameters, birth length, the presence of Hirschsprung disease, and severe anemia correlated to the primary end points of respiratory and severe infections. We implemented traditional statistical methods and machine learning techniques. Results: Thirty-two children with CHH were followed up for 2.7 to 22.1 years (median, 8.2 years, in total 331.3 patient-years). None of the patients had classical SCID. Median lymphocyte subclass counts, apart from CD16 Conclusions: Shorter birth length and a combination of laboratory abnormalities can predict the development of severe infections in children with CHH.
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