Darier disease: Current insights and challenges in pathogenesis and management.

Darier disease is a rare autosomal dominant genodermatosis caused by mutations in the ATP2A2 gene encoding for sarcoendoplasmic reticulum Ca ATPase isoform 2. The skin disease is characterized by a chronic relapsing course with recurrent reddish-brown keratotic papules and plaques located mainly in seborrhoeic areas. Due to chronic inflammation and epidermal barrier defects of the skin, patients often develop severe bacterial and viral superinfections.

Hereditary alpha tryptasemia: elevated tryptase, female sex, thyroid disorders, and anaphylaxis.

Introduction: The clinical significance of elevated baseline serum tryptase (BST) in the absence of mast cell disorders or allergic reactions has long been unclear. Recently, a genetic variation of the gene, which among others encodes for alpha tryptase, has been reported and named hereditary alpha tryptasemia (HaT). HaT has been linked to various manifestations, including severe allergic reactions.

Type I interferon signaling induces melanoma cell-intrinsic PD-1 and its inhibition antagonizes immune checkpoint blockade.

Programmed cell death 1 (PD-1) is a premier cancer drug target for immune checkpoint blockade (ICB). Because PD-1 receptor inhibition activates tumor-specific T-cell immunity, research has predominantly focused on T-cell-PD-1 expression and its immunobiology. In contrast, cancer cell-intrinsic PD-1 functional regulation is not well understood.