STK4 deficiency
Related gene: STK4
Inheritance pattern: Autosomal recessive
An autosomal recessive disease due to variants in the serine/threonine protein kinase 4 (STK4) gene. The clinical phenotype includes persistent viral infections, like HPV-associated epidermodysplasia verruciformis, EBV, molluscum contagiosum, and bacterial infections. Other reported features include fungal infections, mild eczema, autoimmune cytopenias, and lymphopenia. The immunological phenotype is characterized by a reduced number of T cells and B cells and an increased level of immunoglobulin G. Leukocytes have impaired migration and adhesion. Management is directed toward medical and surgical treatment of the epidermodysplasia verruciformis lesions. Affected individuals often require targeted antimicrobial therapy for infections and immunosuppression if autoimmunity is present.
