Inborn errors of immunity (IEI) include various primary immunodeficiency disorders and hereditary autoinflammatory diseases, many of which present with skin symptoms. “Ten signs to suspect primary immunodeficiency” include skin infections such as cellulitis, subcutaneous abscesses, persistent cutaneous mycoses, and severe, widespread verrucae. However, atopic dermatitis-like dermatitis is also common, as seen in hyper-IgE syndrome, Wiskott-Aldrich syndrome, and Netherton syndrome due to skin barrier disruption. On the other hand, hereditary autoinflammatory diseases present with characteristic skin lesions depending on the disease, ranging from erysipelas-like erythema in familial Mediterranean fever to urticarial erythema in cryopyrin-associated periodic fever syndromes, lichenoid papules in Blau syndrome, pyoderma gangrenosum in pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome, lipoatrophy in Nakajo-Nishimura syndrome, and chilblain-like rashes in Aicardi-Goutières syndrome.
In this lecture, I will provide an overview of skin eruptions that characterize each disease and that serve suspicion and clues for diagnosis of the diseases.
