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BackgroundForkhead box N1 (FOXN1) is the master transcriptional regulator of thymic epithelial cells (TECs), quintessential for T cell development. Well-defined biallelic FOXN1 loss-of-function variants lead to congenita...

BackgroundTranscription factor forkhead box protein N1 (FOXN1) is the master transcription factor required for differentiation and maintenance of thymic epithelial cells (TECs) and is not only required for embryonic thym...

Forkhead box P3 (FOXP3) is the master transcription factor of regulatory T cells (Tregs) and is essential for maintaining immune tolerance. FOXP3 is stably expressed in Tregs, driving their suppressive function, and it i...

In the last decade, diagnostic detection of severe combined immune deficiency (SCID) has improved with the widespread implementation of universal newborn screening (NBS) for SCID in the United States. Our case identifies...

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a monogenic disorder caused by loss-of-function mutations in the FOXP3 gene, which is critical for the development of functional regulato...

T follicular helper (Tfh) cells have been reported to have multiple trajectories, including terminally differentiated Tfh, memory-like circulatory Tfh (cTfh), and, most recently, induced T follicular regulatory (iTfr) ce...

BackgroundProgressive multifocal leukoencephalopathy (PML) is a rare opportunistic brain infection caused by the JC virus, and idiopathic PML is increasingly recognized. Deeper profiling of such patients often reveals oc...