Mendelian susceptibility to mycobacterial disease (MSMD) is a PID characterized by genetic defects in the IL-12/Interferon-γ-dependent signaling pathway, with impairment of the production or the response to IFN-γ. These pathways are critical for granuloma formation and killing intracellular bacteria.
Identifying a genetic defect responsible for the disease would allow a precise molecular diagnosis to be issued and make it possible to provide genetic counseling to the patient and their family members. In some cases, detecting a genetic variant can help explore specific treatment options.
This panel is indicated when there is a predisposition to suffer only mycobacterial infections or within a broader context of immunodeficiency with a predisposition to suffer, among others, mycobacterial infections. Typically, this type of patient shows an abnormal response (localized or disseminated) to vaccination with bacillus Calmette-Guérin (BCG). Most patients affected by this PID have a genetic cause with an autosomal recessive inheritance pattern, and only some genes have autosomal dominant or recessive inheritance linked to the X chromosome.
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2) Sample collection
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3) Pack the sample
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4) Send the sample & the request
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5) Result: the report
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Turnaround time (TAT): 25 days
Ref. S-202110268
Updated (dd/mm/yy): 17/02/2025
Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.
