Information on IMD10
Basic details
Name: Immunodeficiency 10 | Acronym: IMD10
Alt. names: STIM1 deficiency
Gene: STIM1 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2009
Last updated on: 2023-12-12 17:58:18 by Andrés Caballero-Oteyza
Description
It is characterized by recurrent infections, lymphadenopathy, impaired T cell and NK cell function, autoimmune cytopenias, hepatosplenomegaly, muscular hypotonia, and defective enamel dentition.
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 | Amelogenesis imperfecta |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Autoimmune thrombocytopenia |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Hypoplasia of the iris |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Muscular hypotonia |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Immunodeficiency |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | repeated bacterial infections |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Recurrent infections |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Septicaemia |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Decreased IgM levels |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 10 | Hepatomegaly |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 11 | Lymphadenopathy |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 12 | Neonatal onset |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 13 | Splenomegaly |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 14 | Autoimmune hemolytic anemia |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 15 | Decreased IgA levels |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 16 | Decreased IgG levels |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 17 | Hypoglycemia |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 18 | Increased IgA levels |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 19 | Increased circulating IgG3 level |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 20 | Kaposi's sarcoma |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 21 | Nephrotic syndrome |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 22 | Recurrent otitis media |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 23 | Recurrent pneumonia |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 24 | Recurrent urinary tract infections |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 25 | Abnormal lymphocyte count |
0 (0.0%) | 0 (0.0%) | 3 (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.