Lymphocyte dysfunction in cartilage hair hypoplasia. II. Evidence for a cell cycle specific defect in T cell growth

Defects of in vitro B and T lymphocyte function and impaired delayed type hypersensitivity reactions, as well as an increased risk of lethal viral infections have been reported in cartilage hair hypoplasia (CHH), an autosomal recessive form of short limbed dwarfism. The authors have previously found an intrinsic proliferative defect that affected several cell types from CHH individuals. In order to further evaluate it we developed continuous T cell lines (CTCL) from CHH and normal individuals. CHH T lymphocytes appear to have a defect related to G sub(1) phase that results in a longer cell cycle for individual cells, and leads to decreased proliferation of the population. The authors postulate that this G sub(1) phase defect is present in multiple cell types in CHH and that analysis of continuous T cell lines from CHH individuals may permit the identification of this defect.