Information on IMD7
Basic details
Name: T-cell receptor-alpha/beta deficiency | Acronym: IMD7
Alt. names:
Gene: TRAC | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2011
Last updated on: 2023-02-28 16:41:18 by
Description
Prophylactic measures, surveillance, and early and aggressive treatment of infections may be beneficial; BMT has been described. Refs. PMIDs: 21206088
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 | Autoimmunity |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Oral candidiasis |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Diarrhea |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Failure to thrive |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Hepatomegaly |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Lymphadenopathy |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Neutropenia |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Recurrent otitis media |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Recurrent respiratory infections |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Autoimmune hemolytic anemia |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 11 | Childhood onset |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 12 | Hypereosinophilia |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 13 | Infantile onset |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 14 | Patchy alopecia |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 15 | Persistent EBV viremia |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 16 | Varicella zoster virus infection |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 17 | Splenomegaly |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 18 | Vitiligo |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
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.