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Titolo:
Defective apoptosis due to a point mutation in the death domain of CD95 associated with autoimmune lymphoproliferative syndrome, T-cell lymphoma, andHodgkin's disease
Autore:
Peters, AMJ; Kohfink, B; Martin, H; Griesinger, F; Wormann, B; Gahr, M; Roesler, J;
Indirizzi:
Univ Freiburg, Childrens Hosp, D-79106 Freiburg, Germany Univ Freiburg Freiburg Germany D-79106 s Hosp, D-79106 Freiburg, Germany Tech Univ Dresden, Childrens Hosp, D-8027 Dresden, Germany Tech Univ Dresden Dresden Germany D-8027 s Hosp, D-8027 Dresden, Germany Univ Hosp Gottingen, Dept Internal Med, Gottingen, Germany Univ Hosp Gottingen Gottingen Germany Internal Med, Gottingen, Germany
Titolo Testata:
EXPERIMENTAL HEMATOLOGY
fascicolo: 5, volume: 27, anno: 1999,
pagine: 868 - 874
SICI:
0301-472X(199905)27:5<868:DADTAP>2.0.ZU;2-6
Fonte:
ISI
Lingua:
ENG
Soggetto:
TUMOR-NECROSIS-FACTOR; FAS GENE-MUTATIONS; MONOCLONAL-ANTIBODY; SURFACE ANTIGEN; RECEPTOR; ACTIVATION; SEQUENCE; LIGAND; MICE; CDNA;
Keywords:
apoptosis; CD95; lymphoproliferative syndrome; Canale-Smith syndrome;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
30
Recensione:
Indirizzi per estratti:
Indirizzo: Peters, AMJ Univ Freiburg, Childrens Hosp, Mathildenstr 1, D-79106 Freiburg, Germany Univ Freiburg Mathildenstr 1 Freiburg Germany D-79106 Germany
Citazione:
A.M.J. Peters et al., "Defective apoptosis due to a point mutation in the death domain of CD95 associated with autoimmune lymphoproliferative syndrome, T-cell lymphoma, andHodgkin's disease", EXP HEMATOL, 27(5), 1999, pp. 868-874

Abstract

Apoptosis via CD95 and its ligand is an important mechanism that prevents uncontrolled proliferation of activated lymphocytes and regulates lymphocyte homeostasis, The apoptosis receptor CD95 is a transmembrane protein with an intracellular domain well conserved between CD95 and tumor necrosis factor receptor I, another apoptosis-inducing protein. Because of its functional importance, this domain was designated the death domain. We describe the molecular analysis of the CD95 death domain in a family with autoimmune lymphoproliferative syndrome (Canale-Smith syndrome), T-cell lymphoma, and Hodgkin's disease. A functional defect in apoptosis was detected in cells fromthe index patient, a 5-year-old girl suffering from Canale-Smith syndrome and a T-cell lymphoma, as well as in her father, who had a history of splenomegaly and mild hemolysis, and her paternal uncle who had been cured of Hodgkin's disease (IID), Expansion of double-negative T cells (CD4(-)CD8) wasonly seen in the index patient, All family members with a functional defect in apoptosis were heterozygous for a point mutation in the death domain of CD95 (A1009G, E256G). We conclude that, within the same family, a defect in apoptosis due to a mutation in the CD95 death domain can be associated with diverse clinical phenotypes, including mild, reversible symptoms and different malignancies, (C) 1999 International Society for Experimental Hematology. Published by Elsevier Science Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/11/20 alle ore 07:07:12