Information on CVID16
Basic details
Name: TRNT1 deficiency | Acronym: CVID16
Alt. names: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay | Immunodeficiency, common variable, 16
Gene: TRNT1 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2014
Last updated on: 2023-02-28 16:41:18 by
Description
Autosomal recessive condition caused by biallelic mutations in TRNT1. Patients present with B-cell immunodeficiency, periodic fevers, and developmental delay.
Management
Medical management (with immunoglobulin therapy) has been described as beneficial; Most patients have been described as requiring regular blood transfusions for treatment of anemia, as well as iron chelation. Early recognition and treatment of hearing impairment may improve outcomes, including speech and language development. BMT has been described.
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Hypochromic microcytic anemia |
12 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Sideroblastic anemia |
12 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Reduced number of B cells |
11 (91.7%) | 0 (0.0%) | 1 (8.3%) |
| 4 | Global developmental delay |
11 (91.7%) | 0 (0.0%) | 1 (8.3%) |
| 5 | Aminoaciduria |
7 (77.8%) | 0 (0.0%) | 2 (22.2%) |
| 6 | Infantile onset |
6 (50.0%) | 0 (0.0%) | 6 (50.0%) |
| 7 | Neonatal onset |
5 (41.7%) | 0 (0.0%) | 7 (58.3%) |
| 8 | Seizures |
5 (41.7%) | 0 (0.0%) | 7 (58.3%) |
| 9 | Sensorineural hearing impairment |
5 (45.5%) | 0 (0.0%) | 6 (54.6%) |
| 10 | Ataxia |
4 (44.4%) | 0 (0.0%) | 5 (55.6%) |
| 11 | Cerebral atrophy |
4 (33.3%) | 0 (0.0%) | 8 (66.7%) |
| 12 | Splenomegaly |
4 (36.4%) | 0 (0.0%) | 7 (63.6%) |
| 13 | Brittle hair |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 14 | Lactic acidosis |
3 (75.0%) | 0 (0.0%) | 1 (25.0%) |
| 15 | Nephrocalcinosis |
3 (42.9%) | 0 (0.0%) | 4 (57.1%) |
| 16 | Rod-cone dystrophy |
3 (50.0%) | 0 (0.0%) | 3 (50.0%) |
| 17 | Cardiomyopathy |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 18 | Childhood onset |
1 (8.3%) | 0 (0.0%) | 11 (91.7%) |
| 19 | Communicating hydrocephalus |
1 (8.3%) | 0 (0.0%) | 11 (91.7%) |
| 20 | Delayed CNS myelination |
1 (8.3%) | 0 (0.0%) | 11 (91.7%) |
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.