Information on IMD88
Basic details
Name: Immunodeficiency 88 | Acronym: IMD88
Alt. names: T-bet deficiency | Mendelian Susceptibility to mycobacterial disease 16 | MSMD16 | TBX21 deficiency
Gene: TBX21 | MOI: Autosomal recessive | Mechanism of action: Loss of Function
No. of cases in DB: 0 | First reported in: 2020
Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza
Description
It is characterized by susceptibility to mycobacteria. Lab data shows reduced IFN-gamma and TNF-alpha production by gamma/delta T cells, MAIT cells, iNKT cells NK cells and CD4 T cells. Only one patient has been described thus far (PMID:33296702).
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 | Asthma |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | BCGosis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Eosinophilia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Infantile onset |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
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.