Epidermodysplasia Verruciformis, Susceptibility to, 4

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the RHOH gene, encoding Rho-related GTP-binding protein RhoH. It presents in childhood and is characterized by defects in T-cell development and signaling leading to increased susceptibility to certain human papilloma viruses (HPV) that cause warty skin lesions that are unresponsive to treatment.

**Synonyms:** - EV4 - Immunodeficiency 129 - RhoH Deficiency