Mediastinal and Disseminated Mycobacterium kansasii Disease in GATA2 Deficiency.
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.
1 Laboratory of Clinical Infectious Diseases, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, and.
Jana P
JP
Lovell
1 Laboratory of Clinical Infectious Diseases, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, and.
Christa S
CS
Zerbe
2 Pulmonary Clinical Medicine Section, Cardiovascular and Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland; and.
Kenneth N
KN
Olivier
1 Laboratory of Clinical Infectious Diseases, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, and.
Reginald J
RJ
Claypool
3 Clinical Research Directorate, Clinical Monitoring Research Program, Leidos Biomedical Research Inc., Frederick National Laboratory for Cancer Research, Frederick, Maryland.
Cathleen
C
Frein
1 Laboratory of Clinical Infectious Diseases, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, and.
Victoria L
VL
Anderson
1 Laboratory of Clinical Infectious Diseases, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, and.
Alexandra F
AF
Freeman
1 Laboratory of Clinical Infectious Diseases, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, and.
Steven M
SM
Holland
D000328:Adult; D000995:Antitubercular Agents / Q000627:therapeutic use; D005260:Female; D050989:GATA2 Transcription Factor / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D016867:Immunocompromised Host; D018664:Interleukin-12 / Q000172:deficiency; D008168:Lung / Q000382:microbiology; D008198:Lymph Nodes / Q000382:microbiology; D000072281:Lymphadenopathy / Q000382:microbiology*; D008297:Male; D008482:Mediastinum / Q000382:microbiology; D008875:Middle Aged; D009154:Mutation; D009165:Mycobacterium Infections, Nontuberculous / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D019909:Mycobacterium kansasii / Q000302:isolation & purification; D012189:Retrospective Studies; D012307:Risk Factors; D055815:Young Adult
D000995:Antitubercular Agents; D050989:GATA2 Transcription Factor; C494711:GATA2 protein, human; D018664:Interleukin-12
immunodeficiency; lymphadenopathy; mediastinal; myelodysplasia; nontuberculous