AIOLOS-Associated Inborn Errors of Immunity
Sign Up to like & getrecommendations! Published in 2024 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-024-01730-9
Abstract: AIOLOS, encoded by the IKZF3 gene, belongs to the Ikaros zinc finger transcription factor family and plays a pivotal role in regulating lymphocyte development. Recently, heterozygous missense loss-of-function variants within the DNA-binding domain of the… read more here.
Keywords: inborn errors; aiolos associated; errors immunity; associated inborn ... See more keywords
Neuroinflammation Associated With Inborn Errors of Immunity
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2021.827815
Abstract: The advent of high-throughput sequencing has facilitated genotype-phenotype correlations in congenital diseases. This has provided molecular diagnosis and benefited patient management but has also revealed substantial phenotypic heterogeneity. Although distinct neuroinflammatory diseases are scarce among… read more here.
Keywords: inborn errors; neuroinflammation; neuroinflammation associated; associated inborn ... See more keywords