STK4 deficiency

Gene: STK4

Inheritance pattern: Autosomal recessive

An autosomal recessive disease due to mutations in the serine/threonine protein kinase 4 (STK4) gene. The clinical phenotype include 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 reduced number of T cells and B cells and increased number of immunoglobulin G. Leukocyte 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.