Article

From Variant of Uncertain Significance to Likely Pathogenic: Report of Two Siblings with Atypical RAG2 Deficiency

2023-07-26

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Severe combined immunodeficiencies (SCIDs) are hereditary disorders characterized by impaired T and B cell function, resulting in significant immune system dysfunction. Recombination-activating gene (RAG) mutations account for a substantial proportion of SCID cases. Here, we present two sibling cases of SCID caused by a novel RAG2 gene mutation. <bold>Case Prese...

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Literature Corpus work: 9bbaa59c-bb2b-5419-b780-d1ff3e3869f0
DOI: 10.21203/rs.3.rs-3175970/v1

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