TCR-alpha-beta-positive T-cell deficiency
MONDO:0014160Mondo
Findings
No curated finding names TCR-alpha-beta-positive T-cell deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
16 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.
- AutoimmunityHPOHP:0002960
- 2 of 2 reported patients
- Decreased total neutrophil countHPOHP:0001875
- 2 of 2 reported patients
- DiarrheaHPOHP:0002014
- 2 of 2 reported patients
- Failure to thriveHPOHP:0001508
- 2 of 2 reported patients
- HepatomegalyHPOHP:0002240
- 2 of 2 reported patients
- LymphadenopathyHPOHP:0002716
- 2 of 2 reported patients
- Recurrent oral thrushHPOHP:0009098
- 2 of 2 reported patients
- Recurrent otitis mediaHPOHP:0000403
- 2 of 2 reported patients
- Recurrent respiratory infectionsHPOHP:0002205
- 2 of 2 reported patients
- Autoimmune hemolytic anemiaHPOHP:0001890
- 1 of 2 reported patients
- Patchy alopeciaHPOHP:0002232
- 1 of 2 reported patients
- Persistent EBV viremiaHPOHP:0020072
- 1 of 2 reported patients
Show the remaining 4
- Severe varicella zoster infectionHPOHP:0032170
- 1 of 2 reported patients
- Severely increased total eosinophil countHPOHP:0032061
- 1 of 2 reported patients
- SplenomegalyHPOHP:0001744
- 1 of 2 reported patients
- VitiligoHPOHP:0001045
- 1 of 2 reported patients
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.
- HGNC:12029HGNC:12029
- Moderate · ClinGen · Autosomal recessive · 2025
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
Where it sits
- A kind of
Other names
2 names
Resolves to: TCR-alpha-beta-positive T-cell deficiency
- Also called
- IMD7TCR-alpha-beta+ T-cell deficiency