T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
MONDO:0015703Mondo
Findings
No curated finding names T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
23 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.
- Recurrent infectionsHPOHP:0002719
- Very frequent (80% to 99% of cases)
- Chronic decreased circulating IgA concentrationHPOHP:0003460
- Frequent (30% to 79% of cases)
- Decreased circulating IgG concentrationHPOHP:0004315
- Frequent (30% to 79% of cases)
- Decreased mitogen-induced T-cell proliferationHPOHP:0031381
- Frequent (30% to 79% of cases)
- Decreased total lymphocyte countHPOHP:0001888
- Frequent (30% to 79% of cases)
- Decreased total T cell countHPOHP:0005403
- Frequent (30% to 79% of cases)
- Failure to thrive secondary to recurrent infectionsHPOHP:0008866
- Frequent (30% to 79% of cases)
- FeverHPOHP:0001945
- Frequent (30% to 79% of cases)
- AnorexiaHPOHP:0002039
- Occasional (5% to 29% of cases)
- DiarrheaHPOHP:0002014
- Occasional (5% to 29% of cases)
- ErythrodermaHPOHP:0001019
- Occasional (5% to 29% of cases)
- HepatitisHPOHP:0012115
- Occasional (5% to 29% of cases)
Show the remaining 11
- HepatosplenomegalyHPOHP:0001433
- Occasional (5% to 29% of cases)
- Increased circulating immunoglobulin concentrationHPOHP:0010702
- Occasional (5% to 29% of cases)
- Increased total eosinophil countHPOHP:0001880
- Occasional (5% to 29% of cases)
- Otitis mediaHPOHP:0000388
- Occasional (5% to 29% of cases)
- PneumoniaHPOHP:0002090
- Occasional (5% to 29% of cases)
- Protracted diarrheaHPOHP:0004385
- Occasional (5% to 29% of cases)
Genes
3 genes
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.
Where it sits
- Narrower terms (3)
Other names
1 name
Resolves to: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
- Also called
- T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta