Mediastinal and Disseminated Mycobacterium kansasii Disease in GATA2 Deficiency

• Published in: Annals of the American Thoracic Society Vol. 13; no. 12; pp. 2169 - 2173
• Main Authors: Lovell, Jana P, Zerbe, Christa S, Olivier, Kenneth N, Claypool, Reginald J, Frein, Cathleen, Anderson, Victoria L, Freeman, Alexandra F, Holland, Steven M
• Format: Journal Article
• Language: English
• Published: United States American Thoracic Society 01-12-2016
• Subjects: Adult; Antitubercular Agents - therapeutic use; Female; GATA2 Transcription Factor - deficiency; GATA2 Transcription Factor - genetics; Humans; Immunocompromised Host; Interleukin-12 - deficiency; Lung - microbiology; Lymph Nodes - microbiology; Lymphadenopathy - microbiology; Male; Mediastinum - microbiology; Middle Aged; Mutation; Mycobacterium Infections, Nontuberculous - diagnosis; Mycobacterium Infections, Nontuberculous - drug therapy; Mycobacterium Infections, Nontuberculous - genetics; Mycobacterium kansasii - isolation & purification; Original Research; Retrospective Studies; Risk Factors; Young Adult; nontuberculous; immunodeficiency; myelodysplasia; mediastinal; lymphadenopathy
• ISSN: 2329-6933; 2325-6621; 2325-6621
• DOI: 10.1513/annalsats.201603-207bc

Mycobacterium kansasii usually causes chronic pulmonary infections in immunocompetent patients. In contrast, disseminated M. kansasii disease is commonly associated with advanced human immunodeficiency virus infection, but is reported infrequently in other immunocompromised patients.
To identify common clinical manifestations and potential risk factors for M. kansasii infection in patients with GATA2 deficiency.
We reviewed M. kansasii disease associated with GATA2 deficiency at one institution and disease associated with primary and other immunodeficiencies reported in the literature.
Nine patients with GATA2 deficiency developed M. kansasii infections. Six patients developed disseminated disease. All patients presented with significant mediastinal lymphadenopathy or abscesses. Seven patients had pulmonary risk factors, including six smokers. The majority of patients had low numbers of neutrophils, monocytes, B cells, CD4
T cells, and natural killer cells. Other conditions associated with disseminated M. kansasii disease were thymic disorders and IFN-γ/IL-12 defects.
Disseminated M. kansasii disease involving mediastinal lymph nodes is surprisingly common in GATA2 deficiency, but also occurs in defects of IFN-γ synthesis and response. Disseminated M. kansasii should be considered a marker indicating a need to evaluate for immunodeficiency syndromes.