immunodeficiency 81
Findings
No curated finding names immunodeficiency 81 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0030302), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
15 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal natural killer cell physiologyHPOHP:0012177
- 1 of 1 reported patient
- Abnormally low T cell receptor excision circle levelHPOHP:0031545
- 1 of 1 reported patient
- AbscessHPOHP:0025615
- 1 of 1 reported patient
- Autoimmune hemolytic anemiaHPOHP:0001890
- 1 of 1 reported patient
- Decreased antigen-specific T cell proliferationHPOHP:0031402
- 1 of 1 reported patient
- Decreased class-switched memory B cell proportionHPOHP:0030388
- 1 of 1 reported patient
- Decreased neutrophil oxidative burst
Show the remaining 3
- Recurrent cutaneous abscess formationHPOHP:0100838
- 1 of 1 reported patient
- Recurrent infectionsHPOHP:0002719
- 1 of 1 reported patient
- Skin rashHPOHP:0000988
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- LCP2HGNC:6529
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2023
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2023
Where it sits
- A kind of
Other names
2 names
Resolves to: immunodeficiency 81
- Also called
- IMD81T-B+ severe combined immunodeficiency due to SLP76 deficiency