Information on IMD80
Basic details
Name: Immunodeficiency 80 | Acronym: IMD80
Alt. names: MCM10 deficiency | Immunodeficiency 80 with or without cardiomyopathy
Gene: MCM10 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2020
Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza
Description
Four cases from 2 families have been reported with this condition. The first case presented with severe (fatal) CMV infection, HLH-like, and reduced NK cells and NK function (PMID:32865517). Patient had low IgG, but normal IgA and IgM and low numbers of B and T cells. The condition phenocopies GINS1 and MCM4 deficiencies, and cardiomyopathy was not reported. The other 3 cases (siblings) additionally presented with congenital cardiomyopathy (PMID:33712616).
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 | Endocardial fibroelastosis |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Fetal onset |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Thymus hypoplasia |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Spleen hypoplasia |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Nonimmune hydrops fetalis |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | pericardial effusion |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Restrictive cardiomyopathy |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Right atrial enlargement |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Reduced number of B cells |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Diarrhea |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Fever |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 12 | Hypertriglyceridemia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 13 | Hypofibrinogenemia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 14 | Immunodeficiency |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 15 | Impaired lymphocyte transformation with phytohemagglutinin |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 16 | Hyperferritinemia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 17 | Reduced NK cell number |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 18 | Cytomegalovirus infection |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 19 | Reduced T cell count |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 20 | Decreased lymphocyte proliferation in response to mitogen: anti-CD3 |
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.