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• W2035754589 abstract "Epidermodysplasia verruciformis (EV) is a rare genetic disorder characterized by increased susceptibility to specific human papillomaviruses, the betapapillomaviruses. These EV-HPVs cause warts and increase the risk of skin carcinomas in otherwise healthy individuals. Inactivating mutations in epidermodysplasia verruciformis 1 (EVER1) or EVER2 have been identified in most, but not all, patients with autosomal recessive EV. We found that 2 young adult siblings presenting with T cell deficiency and various infectious diseases, including persistent EV-HPV infections, were homozygous for a mutation creating a stop codon in the ras homolog gene family member H (RHOH) gene. RHOH encodes an atypical Rho GTPase expressed predominantly in hematopoietic cells. Patients’ circulating T cells contained predominantly effector memory T cells, which displayed impaired TCR signaling. Additionally, very few circulating T cells expressed the β7 integrin subunit, which homes T cells to specific tissues. Similarly, Rhoh-null mice exhibited a severe overall T cell defect and abnormally small numbers of circulating β7-positive cells. Expression of the WT, but not of the mutated RHOH, allele in Rhoh–/– hematopoietic stem cells corrected the T cell lymphopenia in mice after bone marrow transplantation. We conclude that RHOH deficiency leads to T cell defects and persistent EV-HPV infections, suggesting that T cells play a role in the pathogenesis of chronic EV-HPV infections." @default.
• W2035754589 created "2016-06-24" @default.
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• W2035754589 date "2012-09-04" @default.
• W2035754589 modified "2023-10-17" @default.
• W2035754589 title "Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections" @default.
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• W2035754589 doi "https://doi.org/10.1172/jci62949" @default.
• W2035754589 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3428089" @default.
• W2035754589 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22850876" @default.
• W2035754589 hasPublicationYear "2012" @default.
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