Congenital myasthenic syndrome in China: genetic and myopathological characterization
Sign Up to like & getrecommendations! Published in 2021 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51346
Abstract: We aimed to summarize the clinical, genetic, and myopathological features of a cohort of Chinese patients with congenital myasthenic syndrome, and follow up on therapeutic outcomes. read more here.
Keywords: china genetic; myopathological characterization; congenital myasthenic; syndrome china ... See more keywords
Clinical and immunological characteristics of five patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome in China–expanding the atypical phenotypes
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2022.972746
Abstract: Background Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare disorder of the immune regulatory system caused by forkhead box P3 (FOXP3) mutations. Abnormal numbers or functions of regulatory T (Treg) cells account for… read more here.
Keywords: syndrome china; five patients; immune dysregulation; dysregulation polyendocrinopathy ... See more keywords
Characteristics of Good's Syndrome in China: A Systematic Review
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DOI: 10.4103/0366-6999.208234
Abstract: Background: Good's syndrome (GS) is a rare disease characterized by thymoma, hypogammaglobulinemia, low or absent B-cells, decreased T-cells, an inverted CD4+/CD8+ T-cell ratio and reduced T-cell mitogen proliferative responses. GS is difficult to diagnose preoperatively… read more here.
Keywords: good syndrome; characteristics good; syndrome china; infection ... See more keywords