Information on IMD32B
Basic details
Name: Immunodeficiency 32B (monocyte and dendritic cell deficiency) | Acronym: IMD32B
Alt. names:
Gene: IRF8 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2011
Last updated on: 2023-02-28 16:41:18 by
Description
Individuals with Immunodeficiency 32A (CD11C-positive/CD1C-positive dendritic cell deficiency) have been described as demonstrating disseminated BCG disease that was amenable to treatment, and preventive measures, as well as prompt treatment of infection, may be beneficial; Individuals with Immunodeficiency 32B (monocyte and dendritic cell deficiency) demonstrate immunodeficiency, with severe opportunistic infections, and prophylactic measures and prompt and aggressive treatment of infections may be beneficial; HSCT has been described. Refs. PMIDs: 21524210
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 | Anemia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | BCGitis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Cerebral calcification |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Eosinophilia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Failure to thrive |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Fever |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Granulocytic hyperplasia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Hepatomegaly |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Hypoalbuminemia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Impaired oxidative burst |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Infantile onset |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 12 | Monocytopenia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 13 | Neutrophilia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 14 | Splenomegaly |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 15 | Thrombocytopenia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 16 | Abnormal circulating IgG level |
0 (0.0%) | 0 (0.0%) | 1 (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.