immunodeficiency 115

Term ID

DOID:0061081

Synonyms

immunodeficiency 115 with autoinflammation

Definition

A primary immunodeficiency disease that is characterized by the onset of symptoms of immune dysregulation in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the RNF31 gene on chromosome 14q11. https://pubmed.ncbi.nlm.nih.gov/30936877/

References

MIM:620632

Ontology

Human Disease ( DOID:0061081 )

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