open access

Vol 79, No 6 (2011)
CASE REPORTS
Published online: 2011-10-25
Submitted: 2013-02-22
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Two siblings with an IL-12 and IFN-γ production disorder diagnosed with pulmonary mycobacteriosis caused by M. kansasii. Mendelian susceptibility to mycobacterial infection. An overview of literature

Piotr Nalepa, Magdalena Strach, Marta Rybak-Bąk, Maciej Siedlar
Pneumonol Alergol Pol 2011;79(6):428-436.

open access

Vol 79, No 6 (2011)
CASE REPORTS
Published online: 2011-10-25
Submitted: 2013-02-22

Abstract

Two previously healthy siblings were diagnosed with pulmonary mycobacteriosis caused by M. kansasii. During examination both patients were diagnosed with an interleukin 12 (IL-12) and interferon γ (IFN-γ) production disorder of the stimulated lymphocytes. The given genetic defect conditions the occurrence of the Mendelian susceptibility to mycobacterial infection (MSMD).
The patients fulfilled clinical, radiological, and bacteriological criteria for diagnosis of mycobacteriosis laid out by American Thoracic Society in 2007. After 13 months of standard treatment the ailments receded, and radiological remission, as well as a 12-month-lasting sputum negativity was achieved. The prognosis for the patients remains uncertain. The genetic conditioning to mycobacterial infections may cause disease recurrences or other mycobacterial illnesses. The patients will need to be checked systematically by pulmonologist. It is not known whether the offspring of the patients are exposed to general Baccillus Calmette-Guérin infection due to the compulsory vaccinations against tuberculosis, and whether the risk of complications is higher than the potential risk of coming down with hematogenous TB in childhood.
Pneumonol. Alergol. Pol. 2011; 79, 6: 428–436

Abstract

Two previously healthy siblings were diagnosed with pulmonary mycobacteriosis caused by M. kansasii. During examination both patients were diagnosed with an interleukin 12 (IL-12) and interferon γ (IFN-γ) production disorder of the stimulated lymphocytes. The given genetic defect conditions the occurrence of the Mendelian susceptibility to mycobacterial infection (MSMD).
The patients fulfilled clinical, radiological, and bacteriological criteria for diagnosis of mycobacteriosis laid out by American Thoracic Society in 2007. After 13 months of standard treatment the ailments receded, and radiological remission, as well as a 12-month-lasting sputum negativity was achieved. The prognosis for the patients remains uncertain. The genetic conditioning to mycobacterial infections may cause disease recurrences or other mycobacterial illnesses. The patients will need to be checked systematically by pulmonologist. It is not known whether the offspring of the patients are exposed to general Baccillus Calmette-Guérin infection due to the compulsory vaccinations against tuberculosis, and whether the risk of complications is higher than the potential risk of coming down with hematogenous TB in childhood.
Pneumonol. Alergol. Pol. 2011; 79, 6: 428–436
Get Citation

Keywords

mycobacterial infection; Mendelian susceptibility to mycobacterial infection; diagnosis; treatment

About this article
Title

Two siblings with an IL-12 and IFN-γ production disorder diagnosed with pulmonary mycobacteriosis caused by M. kansasii. Mendelian susceptibility to mycobacterial infection. An overview of literature

Journal

Advances in Respiratory Medicine

Issue

Vol 79, No 6 (2011)

Pages

428-436

Published online

2011-10-25

Bibliographic record

Pneumonol Alergol Pol 2011;79(6):428-436.

Keywords

mycobacterial infection
Mendelian susceptibility to mycobacterial infection
diagnosis
treatment

Authors

Piotr Nalepa
Magdalena Strach
Marta Rybak-Bąk
Maciej Siedlar

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