immunodeficiency 118

Term ID

DOID:0061084

Synonyms

Definition

A primary immunodeficiency disease that is characterized by increased susceptibility to the development of disseminated mycobacterial infections in infancy, notably after BCG vaccination and that has_material_basis_in hemizygous mutation in the MCTS1 gene on chromosome Xq24. https://pubmed.ncbi.nlm.nih.gov/37875108/

References

• MIM:301115

Ontology

Human Disease   ( DOID:0061084 )