Article

A novel homozygous RHOH variant associated with T cell dysfunction and recurrent opportunistic infections

2024-02-21

Abstract excerpt

<title>Abstract</title> <p>RHOH, an atypical small GTPase predominantly expressed in hematopoietic cells, plays a vital role in immune function. A deficiency in RHOH has been linked to epidermodysplasia verruciformis, lung disease, Burkitt lymphoma and T cell defects. Here, we report a novel germline homozygous <italic>RHOH</italic> c.245G > A (p.Cys82Tyr) variant in a 21-year-old male suffering from recurrent, i...

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Literature Corpus work: 60f9cea8-ae13-5020-8722-3fe73c7e2aca
DOI: 10.21203/rs.3.rs-3958385/v1

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