immunodeficiency 81
A human immunodeficiency characterized by early-onset life-threatening infections, combined T and B cell immunodeficiency, severe neutrophil defects, and impaired platelet aggregation, caused by a variation in the SLP76 gene.
MONDO:0021094
immunodeficiency disease
is_a
IMD81
exact
T-B+ severe combined immunodeficiency due to SLP76 deficiency
exact
immunodeficiency 81
exact