Information on IMD48
Basic details
Name: Immunodeficiency 48 | Acronym: IMD48
Alt. names:
Gene: ZAP70 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 1994
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.
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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 | Infantile onset |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Absence of CD8-positive T cells |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Chronic diarrhea |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Impaired lymphocyte transformation with phytohemagglutinin |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Pneumocystis carinii pneumonia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Recurrent candida infections |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Recurrent respiratory infections |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Abnormal B cell count |
0 (0.0%) | 0 (0.0%) | 1 (99.9%) |
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
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