Information on IMD68
Basic details
Name: Immunodeficiency 68 | Acronym: IMD68
Alt. names:
Gene: MYD88 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2008
Last updated on: 2023-02-28 16:41:18 by
Description
Individuals have been reported as being susceptible to severe and recurrent pyogenic bacterial infections, and antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial. Refs. PMIDs: 18669862; 21057262; 21734245
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 | Recurrent meningitis |
5 (55.6%) | 0 (0.0%) | 4 (44.4%) |
| 2 | Abscess |
4 (44.4%) | 0 (0.0%) | 5 (55.6%) |
| 3 | Skin infections |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 4 | Reduced number of B cells |
1 (12.5%) | 0 (0.0%) | 7 (87.5%) |
| 5 | Delayed umbilical cord separation |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Septicaemia |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 7 | Infective Arthritis |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 8 | Abnormal NK cell count |
0 (0.0%) | 0 (0.0%) | 7 (99.9%) |
| 9 | Reduced T cell count |
0 (0.0%) | 0 (0.0%) | 7 (99.9%) |
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.