immunodeficiency 57

Term ID

DOID:0111952

Synonyms

• IMD57
• immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
• immunodeficiency 57 with autoinflammation

Definition

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. https://pubmed.ncbi.nlm.nih.gov/30026316/

References

• MIM:618108
• ORDO:529977

Ontology

Human Disease   ( DOID:0111952 )