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This case report details a child with a specific TNFAIP3 mutation manifesting as a severe SLE/SS phenotype, expanding the known phenotype for this genetic variant.

This study reports the first case of diverse medium-sized visceral arterial aneurysms in a patient with functionally impaired A20, potentially linked to HA20, and its atypical presentation in East Asia.

This study found that the enzyme A20 helps regulate EDAR-induced NF-κB signaling in mice, preventing ectodermal abnormalities like disheveled hair and assuring proper skin and appendage development.

Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.

This study reports that a new mouse model with a CARD14 mutation successfully mimics key human PRP symptoms, and anti-IL-17A antibody significantly reduces these symptoms.