MST1 – Epidermodysplasia Verruciformis

Inherited biallelic MST1 deficiency has been reported as a novel genetic cause of Epidermodysplasia Verruciformis, a condition marked by persistent, flat wart–like cutaneous lesions from EV-HPV infection. A whole-exome sequencing study identified a 19-year-old patient with autosomal recessive MST1 deficiency presenting EV-HPV lesions alongside profound T-cell lymphopenia, thereby expanding the clinical spectrum of MST1-related immunodeficiency to include EV ([PMID:22952854]). No further kindreds or segregation data specific to EV have been described, and disease-specific functional assays of MST1 variants in EV context are lacking.

Key Take-home: In patients with EV-HPV infections and T-cell immunodeficiency, MST1 genetic testing should be considered to guide diagnosis, genetic counseling, and management.

References

• PloS One • 2012 • Inherited MST1 deficiency underlies susceptibility to EV-HPV infections. PMID:22952854

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