Information on ADMIO2
Basic details
Name: Autoimmune disease, multisystem, infantile-onset 2 | Acronym: ADMIO2
Alt. names:
Gene: ZAP70 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2016
Last updated on: 2023-02-28 16:41:18 by
Description
In Autoimmune disease, multisystem, infantile-onset 2, individuals may demonstrate multiple autoimmune sequelae that may be refractory to immunosuppressants, and HSCT has been described as effective; In Selective T-cell defect, prophylactic measures, in the short term, include IVIG administration as well as antiinfectious prophylaxis; If blood products are necessary, they should be irradiated and CMV and EBV-negative; Live vaccines should be avoided, and immunizations should be deferred until reconstitution of the immune system; HSCT has been described as effective in some individuals. Refs. PMIDs: 2511270; 8124727; 8202713; 8202712; 10574909; 10748099; 11123350; 11412303; 11463783; 18509675; 19548248; 20301777; 23124046; 26783323
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 | Impaired lymphocyte transformation with phytohemagglutinin |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Increased CD4:CD8 ratio |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | proteinuria |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Colitis |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 5 | Decreased specific pneumococcal antibody level |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Linear IgG deposits along the epidermal basement membrane zone |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Minimal change glomerulonephritis |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 8 | Nephrotic syndrome |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 9 | Podocyte foot process effacement |
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.