2024-03-28T22:01:55Zhttps://uvadoc.uva.es/oai/requestoai:uvadoc.uva.es:10324/98102021-06-23T09:49:13Zcom_10324_1133com_10324_931com_10324_894col_10324_1209
Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia
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.
Sistema inmunitario - Enfermedades
Producción Científica
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
2015-03-19T12:13:47Z
2015-03-19T12:13:47Z
2011
info:eu-repo/semantics/article
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
eng
Attribution-NonCommercial-NoDerivatives 4.0 International
info:eu-repo/semantics/openAccess
http://creativecommons.org/licenses/by-nc-nd/4.0/
application/pdf
Elsevier
https://uvadoc.uva.es/bitstream/10324/9810/6/4.%20MA%20de%20la%20Fuente%20PD-%20217%20.pdf.jpg
Hispana
TEXT
http://creativecommons.org/licenses/by-nc-nd/4.0/
UVaDOC. Repositorio Documental de la Universidad de Valladolid
http://uvadoc.uva.es/handle/10324/9810