TCF1 deficiency ameliorates autoimmune lymphoproliferative syndrome (ALPS)‐like phenotypes of lpr/lpr mice
Sign Up to like & getrecommendations! Published in 2017 at "Scandinavian Journal of Immunology"
DOI: 10.1111/sji.12546
Abstract: Autoimmune lymphoproliferative syndrome (ALPS) is an incurable disease, which is characterized by non‐malignant autoimmune lymphoproliferation. TCF1 is a key effector in the canonical Wnt/β‐catenin pathway, regulating the development, activation and function of T cells. In… read more here.
Keywords: lpr mice; lpr lpr; tcf1 lpr; mice ... See more keywords
ALPS-Like Phenotype Caused by ADA2 Deficiency Rescued by Allogeneic Hematopoietic Stem Cell Transplantation
Sign Up to like & getrecommendations! Published in 2019 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2018.02767
Abstract: Adenosine deaminase 2 (ADA2) deficiency is an auto-inflammatory disease due to mutations in cat eye syndrome chromosome region candidate 1 (CECR1) gene, currently named ADA2. The disease has a wide clinical spectrum encompassing early-onset vasculopathy… read more here.
Keywords: ada2 deficiency; cell transplantation; stem cell; hematopoietic stem ... See more keywords
Case report: Effectiveness of sirolimus in treating partial DiGeorge Syndrome with Autoimmune Lymphoproliferative Syndrome (ALPS)-like features
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2022.1014249
Abstract: Background DiGeorge Syndrome (DGS) is a rare disease associated with 22q11.2 chromosomal microdeletion, also known as a velocardiofacial syndrome, based on the frequent involvements of the palate, facial, and heart problems. Hematologic autoimmunity is rare… read more here.
Keywords: alps like; digeorge syndrome; syndrome; lymphoproliferative syndrome ... See more keywords