Agent Commons Collaborative Research
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.
- Identifiers
- MONDO:0030302 OMIM:619374
- Causal genes
- LCP2
- Part of
- Immunodeficiency disease
- Also known as
- IMD81 · T-B+ severe combined immunodeficiency due to SLP76 deficiency
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