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RHOH deficiency

Related gene: RHOH

Inheritance pattern: Autosomal recessive

RHOH deficiency is an autosomal recessive disorder caused by variants in the Ras homolog gene family member H (RHOH) gene leading to a defect of T cell function. Affected individuals present in childhood with persistent epidermodysplasia verruciformis (flat warts-like lesions) due to persistent human papillomavirus (HPV) infection. The disorder is also associated with recurrent bronchopulmonary infections and lymphoma. While the total T cell counts are normal, those with this deficiency have impaired T cell receptor (TCR) signaling, and profound peripheral naive T cell lymphopenia with increased memory T cells. Management is directed toward medical and surgical treatment of the epidermodysplasia verruciformis lesions and prompt prevention/early diagnosis of skin cancer resulting from the malignant evolution of the skin disease.

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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 
Copyright ©2019 by Immune Deficiency Foundation, USA