Genetic Defects of Apoptosis and Primary Immunodeficiency
Helen C. Su,Michael J. Lenardo +1 more
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TLDR
Several human-inherited diseases with impaired apoptosis have been identified at the genetic level: autoimmune lymphoproliferative syndrome, caspase-8 deficiency state, and X-linked lymphoprologative syndrome.About:
This article is published in Immunology and Allergy Clinics of North America.The article was published on 2008-05-01 and is currently open access. It has received 32 citations till now. The article focuses on the topics: Autoimmune lymphoproliferative syndrome & Lymphocyte homeostasis.read more
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30 Years of NF-κB: A Blossoming of Relevance to Human Pathobiology
TL;DR: The NF-κB was discovered 30 years ago as a rapidly inducible transcription factor and has been found to have a broad role in gene induction in diverse cellular responses, particularly throughout the immune system as mentioned in this paper.
Mutations inFasAssociated withHuman Lymphoproliferative Syndrome and Autoimmunity
P. Lane,M. Lohoff,F. Rieux-Laucat,F. LeDeist,C. Hivroz,A. G. Roberts,K. M. Debatin,A. Fischer +7 more
TL;DR: Fas expression and function were analyzed in three children with a lymphoproliferative syndrome and may provide a molecular basis for some autoimmune diseases in humans.
Journal ArticleDOI
Whole-Exome-Sequencing-Based Discovery of Human FADD Deficiency
Alexandre Bolze,Minji Byun,David McDonald,Neil V. Morgan,Avinash Abhyankar,Lakshmanane Premkumar,Anne Puel,Chris M. Bacon,Frédéric Rieux-Laucat,K K Pang,Alison Britland,Laurent Abel,Laurent Abel,Andrew J. Cant,Andrew J. Cant,Eamonn R. Maher,Stefan J. Riedl,Sophie Hambleton,Sophie Hambleton,Jean-Laurent Casanova,Jean-Laurent Casanova +20 more
TL;DR: A homozygous missense mutation in FADD is identified, encoding the Fas-associated death domain protein (FADD), in the patients, and this FADD mutation decreases steady-state protein levels and impairs Fas-dependent apoptosis in vitro, accounting for biological ALPS phenotypes in vivo.
Journal ArticleDOI
Staying Alive: Cell Death in Antiviral Immunity
TL;DR: The multifaceted role that programmed cell death plays in maintaining the immune system and its critical function in host defense is discussed, with a special emphasis on viral infections.
Journal ArticleDOI
Death Effector Domain-Containing Proteins
M. Gudur Valmiki,Joe W. Ramos +1 more
TL;DR: The role of DED-containing proteins in development and the pathologies arising from abnormal expression of these proteins are focused on.
References
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Classification of cell death: recommendations of the Nomenclature Committee on Cell Death
Guido Kroemer,Guido Kroemer,Guido Kroemer,Lorenzo Galluzzi,Lorenzo Galluzzi,Lorenzo Galluzzi,Peter Vandenabeele,John M. Abrams,Emad S. Alnemri,Eric H. Baehrecke,Mikhail V. Blagosklonny,Wafik S. El-Deiry,Pierre Golstein,Pierre Golstein,Douglas R. Green,Michael O. Hengartner,Richard A. Knight,Sharad Kumar,Stuart A. Lipton,Stuart A. Lipton,Stuart A. Lipton,Walter Malorni,Gabriel Núñez,Marcus E. Peter,Juerg Tschopp,Junying Yuan,Mauro Piacentini,Boris Zhivotovsky,Gerry Melino,Gerry Melino +29 more
TL;DR: This study details the 2009 recommendations of the NCCD on the use of cell death-related terminology including ‘entosis’, ‘mitotic catastrophe”,’ ‘necrosis‚ ‘necroptosis‚’ and ‘pyroptotic’.
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Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome
Galen H. Fisher,Fredric J Rosenberg,Sharon E. Straus,Janet K. Dale,Lindsay A. Middelton,Albert Y. Lin,Warren Strober,Michael J. Lenardo,Jennifer M. Puck +8 more
TL;DR: The occurrence of Fas mutations together with abnormal T cell apoptosis in ALPS patients suggests an involvement of Fas in this recently recognized disorder of lymphocyte homeostasis and peripheral self-tolerance.
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Targeted Disruption of the Mouse Caspase 8 Gene Ablates Cell Death Induction by the TNF Receptors, Fas/Apo1, and DR3 and Is Lethal Prenatally
Eugene Varfolomeev,Marcus Schuchmann,Victor Luria,N. Chiannilkulchai,Jacques S. Beckmann,Igor Mett,Denis V. Rebrikov,Vadim M Brodianski,Oliver Kemper,Orit Kollet,Tsvee Lapidot,Dror Soffer,Tama Sobe,Karen B. Avraham,Tanya Goncharov,Helmut Holtmann,Peter Lonai,David Wallach +17 more
TL;DR: Findings indicate that Caspase 8 plays a necessary and nonredundant role in death induction by several receptors of the TNF/NGF family and serves a vital role in embryonal development.
Mutations inFasAssociated withHuman Lymphoproliferative Syndrome and Autoimmunity
P. Lane,M. Lohoff,F. Rieux-Laucat,F. LeDeist,C. Hivroz,A. G. Roberts,K. M. Debatin,A. Fischer +7 more
TL;DR: Fas expression and function were analyzed in three children with a lymphoproliferative syndrome and may provide a molecular basis for some autoimmune diseases in humans.
Journal ArticleDOI
Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity
Frédéric Rieux-Laucat,F. Le Deist,C Hivroz,Irene Roberts,Klaus-Michael Debatin,Alain Fischer,J P de Villartay +6 more
TL;DR: Fas expression and function were analyzed in three children (including two siblings) with a lymphoproliferative syndrome, two of whom also had autoimmune disorders as discussed by the authors, showing that a large deletion in the gene encoding Fas and no detectable cell surface expression characterized the most affected patient.