Information on MSMD3
Basic details
Name: Mendelian Susceptibility to mycobacterial disease 3 | Acronym: MSMD3
Alt. names: Immunodeficiency 29 | IMD29
Gene: IL12B | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 1998
Last updated on: 2023-02-28 16:41:18 by
Description
It is characterized by undetectable IL12B secretion from leukocytes. IL12B-deficient patients generally present with bacillus Calmette-Guerin (BCG) disease after vaccination in childhood, and at least half also have Salmonella infection. Infections with Mycobacterium tuberculosis and environmental mycobacteria have also been reported in IL12B-deficient patients. The phenotype is relatively mild, and patients have a good prognosis (review by Al-Muhsen and Casanova, 2008).[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 | BCGitis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Infantile onset |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
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