immunodeficiency 85

Term ID

DOID:0061055

Synonyms

immunodeficiency 85 and autoimmunity

Definition

A primary immunodeficiency disease characterized by onset of atopic eczema and recurrent respiratory infections in the first decade of life that has_material_basis_in heterozygous mutation in the TOM1 gene on chromosome 22q12. https://pubmed.ncbi.nlm.nih.gov/31263572/

References

MIM:619510

Ontology

Human Disease ( DOID:0061055 )

Relationships

is a type of: autosomal dominant disease primary immunodeficiency disease

autosomal dominant disease primary immunodeficiency disease Show first 5 Terms

Other Pages

Genes Involved

Zebrafish Models