Information on IMD42
Basic details
Name: Immunodeficiency 42 | Acronym: IMD42
Alt. names:
Gene: RORC | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2015
Last updated on: 2023-02-28 16:41:18 by
Description
Indiviiduals have been described as having increased susceptibility to mycobacterial and candidal infections, as well as disseminated mycobacterial infections after BCG vacciination, and awareness may allow preventive measures, and early and aggressive treatment of infections. Refs. PMIDs: 26160376
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 | BCGosis |
6 (85.7%) | 0 (0.0%) | 1 (14.3%) |
| 2 | Infantile onset |
6 (85.7%) | 0 (0.0%) | 1 (14.3%) |
| 3 | Oral candidiasis |
5 (71.4%) | 0 (0.0%) | 2 (28.6%) |
| 4 | Cutaneous fungal infections |
3 (42.9%) | 0 (0.0%) | 4 (57.1%) |
| 5 | Hepatomegaly |
2 (28.6%) | 0 (0.0%) | 5 (71.4%) |
| 6 | Splenomegaly |
2 (28.6%) | 0 (0.0%) | 5 (71.4%) |
| 7 | Childhood onset |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 8 | Recurrent aphthous stomatitis |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
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.