Accession Number:



A Novel Mutation Causing Mendelian Susceptibility to Mycobacterial Disease

Descriptive Note:

[Technical Report, Briefing Charts]

Corporate Author:

59th Medical Wing

Personal Author(s):

Report Date:


Pagination or Media Count:



Mendelian Susceptibility to Mycobacterial Disease MSMD is a diverse group of diagnoses related to impairment in the immune response to intracellular pathogens, which can be mediated by defects at many points along the way in the mononuclear phagocyteT helper cell type 1 axis. Symptoms typically present in childhood with infection caused by non-pathogenic mycobacteria such as the BCG vaccine. Immunodeficiency 29 is the subset of MSMD caused by mutations in IL-12. We describe a novel mutation causing Immunodeficiency 29 in an Active Duty patient.

Subject Categories:

  • Medicine and Medical Research

Distribution Statement:

[A, Approved For Public Release]