Article

Gain-of-function RAC2 variants presenting as autoinflammatory phenotypes

2023-03-29

Abstract excerpt

<h4>Background: </h4> An expanded spectrum of gain-of-function (GOF) mutations in Ras-related C3 botulinum toxin substrate 2 (RAC2) causes severe combined immunodeficiency (SCID) or combined immunodeficiency (CID), which present with various phenotypes; these immunodeficiencies are characterized by severe lymphopenia, recurrent sinopulmonary infections, bronchiectasis, invasive viral infections, or severe bone mar...

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Literature Corpus work: b3c3895b-ada9-5a56-ae43-bb525e1887b6
DOI: 10.21203/rs.3.rs-2731222/v1

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