Roifman-syndrome

Disorder

• Name: Roifman-syndrome
• Category: Genetic
• Existing deep-research providers: falcon
• Existing evidence reference count in YAML: 41

Key Pathophysiology Nodes

• RNU4ATAC Gene Mutation
• Decreased NK Cell Function
• Decreased total and memory B cells
• Hypogammaglobulinemia
• Deep research literature mapping

Citation Inventory (for evidence mapping)

• DOI:10.1016/j.jaci.2017.11.061
• DOI:10.1038/ncomms9718
• DOI:10.1038/s41433-023-02581-1
• DOI:10.1038/s41525-017-0024-5
• DOI:10.1073/pnas.2102569120
• DOI:10.1101/2020.05.18.101246