Article
Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia.
The Journal of allergy and clinical immunology - 1 Jul 2011
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
Abstract excerpt
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...
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