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The contribution of rare copy number variants in FAS toward pathogenesis of autoimmune lymphoproliferative syndrome

Autoimmune lymphoproliferative syndrome (ALPS) is characterized by chronic nonmalignant lymphadenopathy, splenomegaly, cytopenias, and other autoimmune manifestations. ALPS is caused by lymphocyte accumulation from defects in FAS-mediated apoptosis. Heterozygous germline or somatic pathogenic single...

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Detalles Bibliográficos
Autores principales: Jevtich, Kathleen, Price, Susan, Similuk, Morgan, Kulm, Elaine, Yan, Jia, Setzer, Michael, Jamal, Leila, Franco, Luis M., Ghosh, Rajarshi, Walkiewicz, Magdalena, Rao, V. Koneti
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society of Hematology 2022
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9278309/
https://www.ncbi.nlm.nih.gov/pubmed/35476126
http://dx.doi.org/10.1182/bloodadvances.2021005835