immunodeficiency 57

A primary immunodeficiency disease characterized by recurrent infections starting in the first year of life, lymphopenia, altered production of various cytokines, inflammatory polyarthritis, and chronic active inflammation of the digestive tract that has_mater

A primary immunodeficiency disease characterized by recurrent infections starting in the first year of life, lymphopenia, altered production of various cytokines, inflammatory polyarthritis, and chronic active inflammation of the digestive tract that has_material_basis_in homozygous or compound heterozygous mutation in the RIPK1 gene on chromosome 6p25.2.

Signs and symptoms

• Diarrhea
• Inflammation of the large intestine
• Decreased total T cell count
• Gastritis
• Recurrent respiratory infections
• Perianal abscess
• Reduced total natural killer cell count
• Decreased circulating immunoglobulin concentration
• Bronchiectasis
• Failure to thrive

Also known as: IMD57; immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome; immunodeficiency 57 with autoinflammation