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HELIOS is an IKAROS-family zinc-finger transcription factor that plays an important role in regulatory T cell function and conventional T cell homoeostasis. HELIOS shares a conserved N-terminal DNA-binding and C-terminal...

IntroductionHyperuricemia, pulmonary hypertension, renal failure, alkalosis (HUPRA) syndrome is a mitochondrial disease caused by mutations in SARS2 (seryl-tRNA synthetase 2), which plays a role in protein synthesis. Lim...

One foundational goal of global health and a shared inspiration for all humankind is to reduce premature mortality from preventable and treatable conditions. This imperative becomes markedly more urgent for the uniquely ...

We performed a single-center retrospective analysis of chronic granulomatous disease (CGD) autopsy reports to better understand causes of death, end-organ damage, and disease pathophysiology. Forty-four autopsies of CGD ...

BackgroundGranulomatous-lymphocytic interstitial lung disease (GLILD) is a major cause of morbidity and mortality in common variable immunodeficiency (CVID), yet its pathophysiology remains incompletely understood, and n...