Information on IMD43
Basic details
Name: Immunodeficiency 43 | Acronym: IMD43
Alt. names: MHC class I deficiency-4 | MHC1D4
Gene: B2M | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2006
Last updated on: 2023-02-28 16:41:18 by
Description
It is characterized by decreased or absent expression of MHC class I molecules on the cell surface. Most affected individuals develop recurrent bacterial respiratory tract infections in childhood or adulthood, which may progress to bronchiectasis, and about half develop ulcerating or necrotizing granulomatous inflammatory skin lesions. Laboratory studies show decreased numbers of B cells, hypogammaglobulinemia, hypoproteinemia, and decreased alpha-beta CD8+ T cells with increased gamma-delta CD8+ T cells. The severity is variable, and some individuals may be asymptomatic (summary by Ardeniz et al., 2015).[source:OMIM]
Management
Antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial. Refs. PMIDs: 4186801; 2254461; 16549777; 22693999; 25702838
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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 | Decreased IgG levels |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Decreased circulating beta-2-microglobulin level |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Hypoalbuminemia |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Bronchiectasis |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Decreased specific antibody response to polysaccharide vaccine |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Hypoproteinemia |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Reduced number of B cells |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 8 | Early young adult onset |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 9 | Juvenile onset |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 10 | Lung abscess |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 11 | Organizing pneumonia |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 12 | Reduced NK cell number |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 13 | Subcutaneous nodule |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 14 | Abnormal circulating IgA level |
0 (0.0%) | 0 (0.0%) | 2 (99.9%) |
| 15 | Abnormal circulating IgM level |
0 (0.0%) | 0 (0.0%) | 2 (99.9%) |
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
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