Search Ontology:
Human Disease

immunodeficiency 117

Term ID
DOID:0061083
Synonyms
Definition
A T cell and NK cell immunodeficiency that is characterized by increased susceptibility to disseminated mycobacterial infection apparent in early childhood and that has_material_basis_in homozygous mutation in the IRF1 gene on chromosome 5q31. https://pubmed.ncbi.nlm.nih.gov/36736301/
References
Ontology
Human Disease   ( DOID:0061083 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models