immunodeficiency 57

Summary
Synonym
  • 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.
Super Class
autosomal recessive disease primary immunodeficiency disease
Disease Ontology
DOID:0111952
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
8737 RIPK1 receptor interacting serine/threonine kinase 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024