TFRC-related combined immunodeficiency
MONDO:0014760Mondo
Findings
No curated finding names TFRC-related combined immunodeficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
11 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.
- Intermittent thrombocytopeniaHPOHP:0004854
- 4 of 4 reported patients
- Recurrent sinopulmonary infectionsHPOHP:0005425
- 11 of 14 reported patients
- Chronic diarrheaHPOHP:0002028
- 10 of 14 reported patients
- AnemiaHPOHP:0001903
- 2 of 4 reported patients
- SepsisHPOHP:0100806
- 5 of 14 reported patients
- Failure to thriveHPOHP:0001508
- 4 of 14 reported patients
- ConjunctivitisHPOHP:0000509
- 3 of 14 reported patients
- MeningitisHPOHP:0001287
- 2 of 14 reported patients
- Recurrent oral thrushHPOHP:0009098
- 1 of 14 reported patients
- Decreased circulating immunoglobulin concentrationHPOHP:0004313
- Decreased total neutrophil countHPOHP:0001875
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.
- TFRCHGNC:11763
- Definitive · ClinGen · Autosomal recessive · 2025
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
- Limited · G2P · Autosomal recessive · 2016
Where it sits
- A kind of
Other names
4 names
Resolves to: TFRC-related combined immunodeficiency
- Also called
- CID due to TFRC deficiencyIMD46immunodeficiency 46immunodeficiency type 46