From variant of uncertain significance to likely pathogenic in two siblings with atypical RAG2 Deficiency: a case report and review of the literature

• Main Authors: Nima Taghizadeh Mortezaei (Author), Soha Mohammadi (Author), Hassan Abolhassani (Author), Sima Shokri (Author), Mohammad Nabavi (Author), Morteza Fallahpour (Author), Mohammad Hassan Bemanian (Author)
• Format: Book
• Published: BMC, 2024-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background 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 pres...