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

• Hoofdauteurs: Nima Taghizadeh Mortezaei (Auteur), Soha Mohammadi (Auteur), Hassan Abolhassani (Auteur), Sima Shokri (Auteur), Mohammad Nabavi (Auteur), Morteza Fallahpour (Auteur), Mohammad Hassan Bemanian (Auteur)
• Formaat: Boek
• Gepubliceerd in: BMC, 2024-02-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: 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...