immunodeficiency 127

Term ID

DOID:0061092

Synonyms

Definition

A primary immunodeficiency disease that is characterized by increased susceptibility to recurrent pulmonary infection with Mycobacterium tuberculosis and that has_material_basis_in homozygous mutation in the TNF gene on chromosome 6p21. https://pubmed.ncbi.nlm.nih.gov/39198650/

References

MIM:620977

Ontology

Human Disease ( DOID:0061092 )

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