Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia
Open Access
- 31 July 2011
- journal article
- Published by Elsevier BV in Journal of Allergy and Clinical Immunology
- Vol. 128 (1), 139-146
- https://doi.org/10.1016/j.jaci.2011.03.042
Abstract
No abstract availableKeywords
This publication has 19 references indexed in Scilit:
- Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantationBlood, 2010
- Ribosomopathies: human disorders of ribosome dysfunctionBlood, 2010
- An RNA-dependent RNA polymerase formed by TERT and the RMRP RNANature, 2009
- Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndromeBlood, 2009
- Immunologic and clinical features of 25 Amish patients with RMRP 70 A→G cartilage hair hypoplasiaClinical Immunology, 2009
- Absence of nucleolar disruption after impairment of 40S ribosome biogenesis reveals an rpL11-translation-dependent mechanism of p53 inductionNature, 2009
- Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotypeCurrent Opinion in Allergy and Clinical Immunology, 2008
- Type and Level of RMRP Functional Impairment Predicts Phenotype in the Cartilage Hair Hypoplasia–Anauxetic Dysplasia SpectrumAmerican Journal of Human Genetics, 2007
- Bone marrow transplantation for cartilage-hair-hypoplasiaBone Marrow Transplantation, 2006
- Cartilage-hair hypoplasia — clinical manifestations in 108 Finnish patientsEuropean Journal of Pediatrics, 1993