Information on IMD44
Basic details
Name: Immunodeficiency 44 | Acronym: IMD44
Alt. names: STAT2 deficiency
Gene: STAT2 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2013
Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza
Description
It is characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination in some patients. Affected individuals appear to have defects in mitochondrial fission and fusion (summary by Shahni et al., 2015).[OMIM]
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 | (unusual) Viral infection |
3 (60.0%) | 0 (0.0%) | 2 (40.0%) |
| 2 | Childhood onset |
2 (40.0%) | 0 (0.0%) | 3 (60.0%) |
| 3 | Decreased IgA levels |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Elevated CSF neopterin level |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Lymphopenia |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Decreased IgM levels |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 7 | Elevated circulating ALT levels |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 8 | Increased serum lactate |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 9 | Infantile onset |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 10 | Post-vaccination measles |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 11 | Abnormal circulating IgG 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 |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.