RT info:eu-repo/semantics/article
T1 Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia
A1 Fuente García, Miguel Ángel de la
A1 Recher, Mike
A1 Rider, Nicholas L.
A1 Strauss, Kevin A.
A1 Morton, D. Holmes
A1 Adair, Margaret
A1 Bonilla, Francisco A.
A1 Ochs, Hans D.
A1 Gelfand, Erwin W.
A1 Pessach, Itai M.
A1 Walter, Jolan E.
A1 King, Alejandra
A1 Giliani, Silvia
A1 Pai, Sung-Yun
A1 Notarangelo, Luigi D.
K1 Sistema inmunitario - Enfermedades
AB 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
PB Elsevier
SN 0091-6749
YR 2011
FD 2011
LK http://uvadoc.uva.es/handle/10324/9810
UL http://uvadoc.uva.es/handle/10324/9810
LA eng
NO Journal of Allergy Clinical and Immunology 128(1): 139–146.
NO Producción Científica
DS UVaDOC
RD 29-abr-2024