Information on MSMD10
Name: Mendelian susceptibility to mycobacterial disease 10 | Acronym: MSMD10
Alt. names: Immunodeficiency 86, mycobacteriosis | SPPL2A deficiency
Gene: SPPL2A | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2018
Last updated on: 2023-02-28 by Andrés Caballero-Oteyza
Description
It is characterized by susceptibility to mycobacteria after exposure to BCG vaccine and to Salmonella. It is the result of an impaired development of cDCs and Th1* cells.
Management
Description of management option has not been reviewed yet.
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Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical phenotype | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | BCGitis |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Decreased IgG levels |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Increased IgM levels |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 4 | Impaired oxidative burst |
0 (0.0%) | 0 (0.0%) | 1 (99.9%) |
Age of onset
distribution
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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.
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).