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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.

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This page contains general medical and/or legal information that cannot be applied safely to any individual case. Medical and/or legal knowledge and practice can change rapidly. Therefore, this page should not be used as a substitute for professional medical and/or legal advice.

Adapted from the IDF Patient & Family Handbook for Primary Immunodeficiency Diseases, Sixth Edition 
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