Immunodeficiency 81
Immunodeficiency 81
Definition
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.
Also known as IMD81, immunodeficiency 81, T-B+ severe combined immunodeficiency due to SLP76 deficiency — per MONDO