Cartilage‐hair hypoplasia with T‐cell dysfunction-Reference-Cited by-同舟云学术

Cartilage‐hair hypoplasia with T‐cell dysfunction

Published:2022-01 Issue:1 Volume:64 Page:
ISSN:1328-8067
Container-title:Pediatrics International
language:en
Short-container-title:Pediatrics International

Author:

Tomomasa Dan¹,Sato Takeshi²^ORCID,Hasegawa Tomonobu²,Morio Tomohiro¹,Kanegane Hirokazu³^ORCID

Affiliation:

1. Departments of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences Tokyo Medical and Dental University (TMDU) Tokyo Japan

2. Department of Pediatrics Keio University School of Medicine Tokyo Japan

3. Child Health and Development Graduate School of Medical and Dental Sciences Tokyo Medical and Dental University (TMDU) Tokyo Japan

Publisher

Wiley

Subject

Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ped.15080

Reference6 articles.

1. Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia

2. Defects in lymphocyte telomere homeostasis contribute to cellular immune phenotype in patients with cartilage-hair hypoplasia

3. Type and Level of RMRP Functional Impairment Predicts Phenotype in the Cartilage Hair Hypoplasia–Anauxetic Dysplasia Spectrum

4. 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

5. Variable Phenotype of Severe Immunodeficiencies Associated with RMRP Gene Mutations

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. RMRP‐related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review;American Journal of Medical Genetics Part A;2024-02-09

2. Shorter birth length and decreased T-cell production and function predict severe infections in children with non–severe combined immunodeficiency cartilage–hair hypoplasia;Journal of Allergy and Clinical Immunology: Global;2024-02

3. Immune-mediated conditions and cellular biomarkers for early diagnosis of oral diseases;Nano TransMed;2023-09