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Summary Literature (0)
DOID:0111952 - immunodeficiency 57

Disease Ontology 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.

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

Xenbase Genes : ripk1


MIM:
MIM:618108 - IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION; IMD57

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), primary immunodeficiency disease (is_a)