Document Detail

Cartilage-hair hypoplasia syndrome: increased apoptosis of T lymphocytes is associated with altered expression of Fas (CD95), FasL (CD95L), IAP, Bax, and Bcl2.
MedLine Citation:
PMID:  10634217     Owner:  NLM     Status:  MEDLINE    
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.
L Yel; S Aggarwal; S Gupta
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of clinical immunology     Volume:  19     ISSN:  0271-9142     ISO Abbreviation:  J. Clin. Immunol.     Publication Date:  1999 Nov 
Date Detail:
Created Date:  2000-01-28     Completed Date:  2000-01-28     Revised Date:  2008-05-14    
Medline Journal Info:
Nlm Unique ID:  8102137     Medline TA:  J Clin Immunol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  428-34     Citation Subset:  IM    
Clinical and Molecular Immunology Laboratories, Division of Basic and Clinical Immunology, University of California, Irvine 92697-4069, USA.
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MeSH Terms
Antigens, CD95 / analysis*
Dwarfism / immunology*
Fas Ligand Protein
Hair Diseases / immunology*
Immunologic Deficiency Syndromes / immunology*
Membrane Glycoproteins / analysis*
Middle Aged
Proteins / analysis*
Proto-Oncogene Proteins / analysis*
Proto-Oncogene Proteins c-bcl-2 / analysis*
T-Lymphocytes / physiology*
X-Linked Inhibitor of Apoptosis Protein
bcl-2-Associated X Protein
Reg. No./Substance:
0/Antigens, CD95; 0/BAX protein, human; 0/FASLG protein, human; 0/Fas Ligand Protein; 0/Membrane Glycoproteins; 0/Proteins; 0/Proto-Oncogene Proteins; 0/Proto-Oncogene Proteins c-bcl-2; 0/X-Linked Inhibitor of Apoptosis Protein; 0/XIAP protein, human; 0/bcl-2-Associated X Protein

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