immunodeficiency 86

Term ID

DOID:0061056

Synonyms

Definition

A T cell deficiency that is characterized by susceptibility to mycobacterial disease after exposure to BCG vaccine and that has_material_basis_in homozygous mutation in the SPPL2A gene on chromosome 15q21. https://pubmed.ncbi.nlm.nih.gov/30127434/

References

• MIM:619549

Ontology

Human Disease   ( DOID:0061056 )