Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation.

doi:10.1172/JCI43752

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Article

Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation.

The Journal of clinical investigation - 1 Jan 2011

Magerus-Chatinet Aude, Neven Bénédicte, Stolzenberg Marie-Claude, Daussy Cécile, Arkwright Peter D, Lanzarotti Nina, Schaffner Catherine, Cluet-Dennetiere Sophie, Haerynck Filomeen, Michel Gérard, Bole-Feysot Christine, Zarhrate Mohammed, Radford-Weiss Isabelle, Romana Serge P, Picard Capucine, Fischer Alain, Rieux-Laucat Frédéric

Abstract excerpt

Autoimmune diseases develop in approximately 5% of humans. They can arise when self-tolerance checkpoints of the immune system are bypassed as a consequence of inherited mutations of key genes involved in lymphocyte activation, survival, or death. For example, autoimmune lymphoproliferative syndrome (ALPS) results from defects in self-tolerance checkpoints as a consequence of mutations in the death...

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PMID: 21183795
DOI: 10.1172/JCI43752
PMCID: PMC3007148

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