immunodeficiency 89

Term ID

DOID:0061059

Synonyms

immunodeficiency 89 and autoimmunity

Definition

A primary immunodeficiency disease that is characterized by adult onset of recurrent infections, allergies, microcytic anemia, and Crohn disease and that has_material_basis_in homozygous mutation in the CARD10 gene on chromosome 22q13. https://pubmed.ncbi.nlm.nih.gov/32238915/

References

MIM:619632

Ontology

Human Disease ( DOID:0061059 )

Relationships

is a type of: autosomal recessive disease primary immunodeficiency disease

autosomal recessive disease primary immunodeficiency disease Show first 5 Terms

Other Pages

Genes Involved

Zebrafish Models