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DO Term : immunodeficiency 57 [DOID:0111952] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • immunodeficiency 57 with autoinflammation,
  • IMD57,
  • 618108,
  • ORDO:529977,
  • OMIM:618108,
  • immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
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