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Abstract This study is the first to report epidermodysplasia verruciformis (EV) associated with ARTEMIS deficiency in a young adult. This broadens the clinical scope of ARTEMIS deficiency, and… (More)
To the Editor: The extrinsic pathway of lymphocyte apoptosis, mediated by the binding of Fas ligand (FasL) to its receptor Fas, limits the expansion of immune cells after clearance of pathogens. Fas… (More)
ORAI1 is the pore-forming subunit of the calcium release-activated calcium channel responsible for calcium influx into cells triggered by endoplasmic reticulum store depletion. We report here a… (More)
Whole exome sequencing is increasingly used in the diagnosis of primary immunodeficiencies due to the overlapping and atypical presentations of these disorders. We report two patients who presented… (More)