We report here the first case of disseminated Mycobacterium xenopi infection in IL-12Rβ1 deficiency, expanding the list of NTM reported in MSMD. Notably, the overt clinical presentation was remarkably late in the patient, notwithstanding that the CMC went unnoticed for her entire lifetime. From our observation, disseminated NTM infections in the absence of secondary immunodeficiency should always rise the suspicion of MSMD, even in adulthood.

Disseminated Mycobacterium xenopi in an Adult with IL-12Rβ1 Deficiency

Giglio S.
Conceptualization
;
2020-01-01

Abstract

We report here the first case of disseminated Mycobacterium xenopi infection in IL-12Rβ1 deficiency, expanding the list of NTM reported in MSMD. Notably, the overt clinical presentation was remarkably late in the patient, notwithstanding that the CMC went unnoticed for her entire lifetime. From our observation, disseminated NTM infections in the absence of secondary immunodeficiency should always rise the suspicion of MSMD, even in adulthood.
2020
Mycobacterium xenopi; IL-12; Infection; NTM infections; Exome sequencing; CD4+ T lymphocyte; IL12RB1 gene
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11584/298035
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