Article

From Variant of Uncertain Significance to Likely Pathogenic in Two Siblings with Atypical RAG2 Deficiency: a case report and review of the literature

2023-09-14

Abstract excerpt

<h4>Background: </h4> 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. Case Presentation: The first case engaged a 1-...

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Literature Corpus work: 177c9644-a97e-5860-98f5-0118dac36632
DOI: 10.21203/rs.3.rs-3276411/v1

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