Information on IMD31A
Basic details
Name: Immunodeficiency 31A, mycobacteriosis | Acronym: IMD31A
Alt. names: MSMD
Gene: STAT1 | MOI: Autosomal dominant | Mechanism of action: Loss of Function
No. of cases in DB: 0 | First reported in: 2001
Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza
Description
It results from autosomal dominant (AD) STAT1 deficiency. STAT1 is crucial for cellular responses to IFNA/IFNB (type I interferon) and IFNG (type III interferon). AD STAT1 deficiency selectively affects the IFNG pathway, but not the IFNA/IFNB pathway, and confers a predisposition to mycobacterial infections. Pathogens reported in IMD31A patients include bacillus Calmette-Guerin (BCG) and Mycobacterium avium complex, as well as Mycobacterium tuberculosis. IMD31A has low penetrance and a mild clinical phenotype with good prognosis for recovery (review by Al-Muhsen and Casanova, 2008).[OMIM]
Management
Description of management option has not been reviewed yet.
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
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 | BCGitis |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 2 | Childhood onset |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 3 | Juvenile onset |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 4 | Recurrent mycobacterium avium complex infections |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 5 | Recurrent viral infections |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.