2026-04-29T04:19:15Zhttps://uvadoc.uva.es/oai/request

oai:uvadoc.uva.es:10324/98102021-06-23T09:49:13Zcom_10324_1133com_10324_931com_10324_894col_10324_1209

Fuente García, Miguel Ángel de la Recher, Mike Rider, Nicholas L. Strauss, Kevin A. Morton, D. Holmes Adair, Margaret Bonilla, Francisco A. Ochs, Hans D. Gelfand, Erwin W. Pessach, Itai M. Walter, Jolan E. King, Alejandra Giliani, Silvia Pai, Sung-Yun Notarangelo, Luigi D. 2015-03-19T12:13:47Z 2015-03-19T12:13:47Z 2011 Journal of Allergy Clinical and Immunology 128(1): 139–146. 0091-6749 http://uvadoc.uva.es/handle/10324/9810 10.1016/j.jaci.2011.03.042 139 1 146 Journal of Allergy Clinical and Immunology 128 Background: Cartilage-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. Objectives: We aimed to define thymic output and characterize immune function in a cohort of patients with molecularly defined CHH with and without associated clinical immunodeficiency. Methods: We 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. Results: Patients 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. Conclusion: These 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 eng info:eu-repo/semantics/openAccess http://creativecommons.org/licenses/by-nc-nd/4.0/ Attribution-NonCommercial-NoDerivatives 4.0 International Sistema inmunitario - Enfermedades Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia info:eu-repo/semantics/article