Disseminated non-tuberculous mycobacterial infection


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Inclusion criteria:

Individuals with disseminated (multiple lymph nodes, liver, spleen, bone or other organs) or progressive disease (including progressive skin or lymph node infection at the site of BCG due to BCG or non-tuberculous mycobacteria

Exclusion criteria:

Underlying immunodeficiency (PID, CGD); HIV Infection; Infection following bone marrow transplantation or cancer chemotherapy.

Prior genetic testing guidance:

  • Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.
  • Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Prior genetic testing genes:

Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: No genes specified

Closing statement:

These requirements will be kept under continual review during the main programme and may be subject to change.

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