PMID: 11902333Mar 21, 2002Paper

Genesis of progressive T-cell deficiency owing to a single missense mutation in the common gamma chain gene

Scandinavian Journal of Immunology
A S GoldmanF C Schmalstieg

Abstract

Patients with a moderate X-linked combined immunodeficiency (XCID) owing to a single missense mutation in the common gamma chain (gammac) gene (L-->Q271) were found to have a progressive T-cell deficiency. Blood T cells from four older subjects with XCIDL-->Q271 were studied to ascertain the basis of that progression. Few CD4+ T cells displayed the phenotype (CD45RA+ CD62L+) or deletion circles from T-cell receptor (TCR) Vbeta-gene rearrangements found in recent thymic emigrants. These deficiencies were more severe in older males with XCIDL-->Q271. Relative frequencies of fresh CD4+ and CD8+ T cells that bound annexin V, an early indicator of programmed cell death, or propidium iodide, an indicator of cell necrosis, were greater in XCIDL-->Q271 T cells than in normal fresh T cells. The binding of annexin V and propidium iodide to XCIDL-Q271 T cells increased marginally after stimulation with anti-CD3, but binding by fresh or stimulated XCIDL-Q271 T cells exceeded that found in normal stimulated T cells. Also, telomeres from XCIDL-->Q271 CD4+ T cells were shortened in these patients compared to normal young adults. It therefore appears that the thymus is dysfunctional and that mature T cells are not effectively rescued from apop...Continue Reading

References

Jul 1, 1992·Clinical Immunology and Immunopathology·F C SchmalstiegA S Goldman
Jun 20, 1992·Journal of Molecular Biology·M Z LevyC B Harley
Jul 17, 1992·Science·T TakeshitaK Sugamura
Nov 1, 1991·Science·R KühnW Müller
Nov 8, 1990·Nature·E B Bell, S M Sparshott
Nov 1, 1990·The Journal of Clinical Investigation·E G BrooksA S Goldman
Sep 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·M L BirkelandE Puré
Jan 1, 1986·Current Topics in Pathology. Ergebnisse Der Pathologie·G G Steinmann
Aug 17, 1995·The New England Journal of Medicine·F S RosenR J Wedgwood
Jul 1, 1995·Experimental Cell Research·R C Allsopp, C B Harley
Apr 1, 1995·The Journal of Experimental Medicine·U von Freeden-JeffryR Murray
Jan 1, 1995·International Immunology·Y KimuraK Sugamura
Jun 1, 1994·Molecular and Cellular Neurosciences·I Lindberg
Sep 15, 1993·Proceedings of the National Academy of Sciences of the United States of America·X CaoW J Leonard
Jun 1, 1996·The Journal of Experimental Medicine·N P WengR J Hodes
Jun 10, 1997·AIDS Research and Human Retroviruses·A G RodrigoJ I Mullins
Jul 1, 1997·Clinical and Experimental Immunology·J B Winfield
Jan 7, 1998·The Journal of Experimental Medicine·B WongY Choi
Jul 1, 1998·Advances in Immunology·H R Rodewald, H J Fehling
Jun 15, 1999·Immunity·B D JamiesonJ A Zack
Aug 17, 1999·The Journal of Experimental Medicine·J F PoulinR P Sékaly
Nov 4, 2000·The New England Journal of Medicine·R H Buckley
Nov 18, 2000·Nature·E H Blackburn

❮ Previous
Next ❯

Citations

Jul 20, 2002·Molecular Genetics and Metabolism·Frank C Schmalstieg, Armond S Goldman
Apr 21, 2004·The Journal of Molecular Diagnostics : JMD·Megan S Lim, Kojo S J Elenitoba-Johnson

❮ Previous
Next ❯

Related Concepts

Related Feeds

Apoptosis

Apoptosis is a specific process that leads to programmed cell death through the activation of an evolutionary conserved intracellular pathway leading to pathognomic cellular changes distinct from cellular necrosis