Information on IMD37
Basic details
Name: Immunodeficiency 37 | Acronym: IMD37
Alt. names:
Gene: BCL10 | 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
Individuals have been described as susceptible to severe infections, and awareness may allow preventive measures and early and aggressive treatment of infections. Refs. PMIDs: 25365219
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 | Colitis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Decreased proportion of central memory CD4-T cells |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Infantile onset |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Infectious encephalitis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Recurrent infections |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Seizures |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Status epilepticus |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
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.