Information on MSMD2
Basic details
Name: Mendelian Susceptibility to mycobacterial disease 2 | Acronym: MSMD2
Alt. names: IL12RB2 deficiency | IL-12R-beta-2 deficiency
Gene: IL12RB2 | MOI: Autosomal recessive | Mechanism of action: Loss of Function
No. of cases in DB: 0 | First reported in: 2018
Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza
OMIM:
Orphanet: -
MONDO: -
DOID: -
ClinGen:
Description
Condition first reported in 2018 by Martinez-Barricarte et al. in 2018 in one kindred (PMID:30578351). It is characterized by susceptibility to mycobacteria and Salmonella. IFN-gamma secretion is affected in lymphocytes and NK cells.
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 |
|---|
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.