Information on IMD75
Basic details
Name: Immunodeficiency 75 | Acronym: IMD75
Alt. names: TET2 deficiency
Gene: TET2 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2020
Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza
Description
There is only a few subjects described with this condition. Affected individuals present with an ALPS-like phenotype, recurrent viral infections, EBV viremia, lymphadenopathy, hepatosplenomegaly, autoimmunity, B-lymphoma, failure to thrive, and developmental delay. Immunophenotyping showed increased CD4-CD8 T cells and reduced number of memory B cells. TET2 deficiency causes DNA hypermethylation and defective FAS-mediated apoptosis.
Management
Description of management option has not been reviewed yet.
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 | Bronchiectasis |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Decreased proportion of switched memory B cells |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Hepatosplenomegaly |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Infantile onset |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Lymphadenopathy |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Lymphoma |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Moderate global developmental delay |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Recurrent respiratory infections |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Decreased FasL-mediated apoptosis |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 10 | Persistent EBV viremia |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
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.