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Case report: Effectiveness of sirolimus in treating partial DiGeorge Syndrome with Autoimmune Lymphoproliferative Syndrome (ALPS)-like features
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 in DGS but presents with a refractory cou...
Autores principales: | Gu, Hao, Mou, Wenjun, Chen, Zhenping, Xie, Xingjuan, Yao, Jiafeng, Zhang, Rui, Wu, Runhui, Gui, Jingang |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9889826/ https://www.ncbi.nlm.nih.gov/pubmed/36741091 http://dx.doi.org/10.3389/fped.2022.1014249 |
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