title: Cartilage-hair hypoplasia syndrome: increased apoptosis of T lymphocytes is associated with altered expression of Fas (CD95), FasL (CD95L), IAP, Bax, and Bcl2.
abstract: Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive short-limbed dwarfism associated with thin and sparse hair and cell mediated or combined immunodeficiency. However, the basis of immune deficiency in CHH is unclear. In this study, we investigated a role of apoptosis in immunodeficiency in a patient with CHH. An increased apoptosis of both CD4+ and CD8+ T cells, as determined by TUNEL assay, was observed in CHH compared to an age-matched healthy dwarf control. Increased apoptosis in CHH was associated with increased expression of Fas (CD95), CD95L, and Bax and decreased expression of Bcl-2 and inhibitor of apoptosis protein (IAP) compared to the control. These data suggest that lymphopenia and immunodeficiency in CHH may be, at least in part, due to increased apoptosis of T cells, possibly through the Fas/ FasL signaling pathway.
authors.affiliation: Clinical and Molecular Immunology Laboratories, Division of Basic and Clinical Immunology, University of California, Irvine 92697-4069, USA.
authors.forename: L
authors.initials: L
authors.lastname: Yel
authors.forename: S
authors.initials: S
authors.lastname: Aggarwal
authors.forename: S
authors.initials: S
authors.lastname: Gupta
mesh_terms: D017209:Apoptosis; D004392:Dwarfism / Q000276:immunology*; D053222:Fas Ligand Protein; D006201:Hair Diseases / Q000276:immunology*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000276:immunology*; D008297:Male; D008562:Membrane Glycoproteins / Q000032:analysis*; D008875:Middle Aged; D011506:Proteins / Q000032:analysis*; D011518:Proto-Oncogene Proteins / Q000032:analysis*; D019253:Proto-Oncogene Proteins c-bcl-2 / Q000032:analysis*; D013601:T-Lymphocytes / Q000502:physiology*; D051636:X-Linked Inhibitor of Apoptosis Protein; D051028:bcl-2-Associated X Protein; D019014:fas Receptor / Q000032:analysis*
chemical_list: C494826:BAX protein, human; C505661:FASLG protein, human; D053222:Fas Ligand Protein; D008562:Membrane Glycoproteins; D011506:Proteins; D011518:Proto-Oncogene Proteins; D019253:Proto-Oncogene Proteins c-bcl-2; D051636:X-Linked Inhibitor of Apoptosis Protein; C496866:XIAP protein, human; D051028:bcl-2-Associated X Protein; D019014:fas Receptor