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Reduced CD95-induced lymphocyte apoptosis

MedGen UID:
1780105
•Concept ID:
C5539476
•
Finding
HPO: HP:0033278

Definition

Reduced amount of programmed cell death in peripheral blood lymphocytes following exposure to CD95 (APO-1/Fas), which is a member of the death receptor family, a subfamily of the TNF-R superfamily. Crosslinking of CD95 with its natural ligand CD95L (CD178) or with agonistic antibodies such as anti-APO-1 induces apoptosis in sensitive cells. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced CD95-induced lymphocyte apoptosis

Conditions with this feature

Autoimmune lymphoproliferative syndrome type 2B
MedGen UID:
339548
•Concept ID:
C1846545
•
Disease or Syndrome
Caspase 8 deficiency is a syndrome of lymphadenopathy and splenomegaly, marginal elevation of 'double-negative T cells' (DNT; T-cell receptor alpha/beta+, CD4-/CD8-), defective FAS-induced apoptosis, and defective T-, B-, and natural killer (NK)-cell activation, with recurrent bacterial and viral infections (summary by Madkaikar et al., 2011).
See: Condition Record
Autoimmune lymphoproliferative syndrome type 2B

Professional guidelines

PubMed

Residual CD95-pathway function in children with autoimmune lymphoproliferative syndrome is independent from clinical state and genotype of CD95 mutation.
Fuchs H, Posovszky C, Lahr G, van der Werff ten Bosch J, Boehler T, Debatin KM
Pediatr Res 2009 Feb;65(2):163-8. doi: 10.1203/PDR.0b013e318191f7e4. PMID: 18948840

Recent clinical studies

Etiology

Thiopental-induced apoptosis in lymphocytes is independent of CD95 activation.
Keel M, Mica L, Stover J, Stocker R, Trentz O, Härter L
Anesthesiology 2005 Sep;103(3):576-84. doi: 10.1097/00000542-200509000-00021. PMID: 16129983
Ordering of ceramide formation, caspase activation, and mitochondrial changes during CD95- and DNA damage-induced apoptosis.
Tepper AD, de Vries E, van Blitterswijk WJ, Borst J
J Clin Invest 1999 Apr;103(7):971-8. doi: 10.1172/JCI5457. PMID: 10194469Free PMC Article

Diagnosis

Features of cell death, mitochondrial activation and caspase dependence of rabbit anti-T-lymphocyte globulin signaling in lymphoblastic Jurkat cells are distinct from classical apoptosis signaling of CD95.
Ziegler C, Finke J, Grüllich C
Leuk Lymphoma 2016;57(1):177-82. Epub 2015 May 25 doi: 10.3109/10428194.2015.1044449. PMID: 25927246
Residual CD95-pathway function in children with autoimmune lymphoproliferative syndrome is independent from clinical state and genotype of CD95 mutation.
Fuchs H, Posovszky C, Lahr G, van der Werff ten Bosch J, Boehler T, Debatin KM
Pediatr Res 2009 Feb;65(2):163-8. doi: 10.1203/PDR.0b013e318191f7e4. PMID: 18948840
CD226 expression deficiency causes high sensitivity to apoptosis in NK T cells from patients with systemic lupus erythematosus.
Tao D, Shangwu L, Qun W, Yan L, Wei J, Junyan L, Feili G, Boquan J, Jinquan T
J Immunol 2005 Feb 1;174(3):1281-90. doi: 10.4049/jimmunol.174.3.1281. PMID: 15661884
c-Jun-dependent CD95-L expression is a rate-limiting step in the induction of apoptosis by alkylating agents.
Kolbus A, Herr I, Schreiber M, Debatin KM, Wagner EF, Angel P
Mol Cell Biol 2000 Jan;20(2):575-82. doi: 10.1128/MCB.20.2.575-582.2000. PMID: 10611236Free PMC Article
Ordering of ceramide formation, caspase activation, and mitochondrial changes during CD95- and DNA damage-induced apoptosis.
Tepper AD, de Vries E, van Blitterswijk WJ, Borst J
J Clin Invest 1999 Apr;103(7):971-8. doi: 10.1172/JCI5457. PMID: 10194469Free PMC Article

Therapy

CD226 expression deficiency causes high sensitivity to apoptosis in NK T cells from patients with systemic lupus erythematosus.
Tao D, Shangwu L, Qun W, Yan L, Wei J, Junyan L, Feili G, Boquan J, Jinquan T
J Immunol 2005 Feb 1;174(3):1281-90. doi: 10.4049/jimmunol.174.3.1281. PMID: 15661884

Clinical prediction guides

SHIP-1 inhibits CD95/APO-1/Fas-induced apoptosis in primary T lymphocytes and T leukemic cells by promoting CD95 glycosylation independently of its phosphatase activity.
Charlier E, Condé C, Zhang J, Deneubourg L, Di Valentin E, Rahmouni S, Chariot A, Agostinis P, Pang PC, Haslam SM, Dell A, Penninger J, Erneux C, Piette J, Gloire G
Leukemia 2010 Apr;24(4):821-32. Epub 2010 Feb 11 doi: 10.1038/leu.2010.9. PMID: 20147977
Residual CD95-pathway function in children with autoimmune lymphoproliferative syndrome is independent from clinical state and genotype of CD95 mutation.
Fuchs H, Posovszky C, Lahr G, van der Werff ten Bosch J, Boehler T, Debatin KM
Pediatr Res 2009 Feb;65(2):163-8. doi: 10.1203/PDR.0b013e318191f7e4. PMID: 18948840
Thiopental-induced apoptosis in lymphocytes is independent of CD95 activation.
Keel M, Mica L, Stover J, Stocker R, Trentz O, Härter L
Anesthesiology 2005 Sep;103(3):576-84. doi: 10.1097/00000542-200509000-00021. PMID: 16129983
Inhibition of TNF-alpha mediated cell death by HIV-1 specific protease inhibitors.
Wolf T, Findhammer S, Nolte B, Helm EB, Brodt HR
Eur J Med Res 2003 Jan 28;8(1):17-24. PMID: 12578750
Ceramides that mediate apoptosis reduce glucose uptake and transporter affinity for glucose in human leukaemic cell lines but not in neutrophils.
Ahmed N, Berridge MV
Pharmacol Toxicol 2000 Mar;86(3):114-21. doi: 10.1034/j.1600-0773.2000.d01-21.x. PMID: 10752668

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