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

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, whi...

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發表在:J Allergy Clin Immunol
Main Authors: de la Fuente, Miguel A., 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.
格式: Artigo
語言:Inglês
出版: 2011
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Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4287238/
https://ncbi.nlm.nih.gov/pubmed/21570718
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jaci.2011.03.042
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