[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].
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.
Mykobakterioza płuc wywołana przez M. kansasiiu dwojga rodzeństwa z zaburzeniami produkcji IL-12 i IFN-g.Zespół wrażliwości typu Mendla na zakażenie prątkami.Przegląd piśmiennictwa.
Piotr
P
Nalepa
Magdalena
M
Strach
Marta
M
Rybak-Bąk
Maciej
M
Siedlar
D000328:Adult; D002851:Chromatography, High Pressure Liquid; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D007371:Interferon-gamma / Q000096:biosynthesis / Q000172:deficiency* / Q000235:genetics; D018664:Interleukin-12 / Q000096:biosynthesis / Q000172:deficiency* / Q000235:genetics; D008297:Male; D009165:Mycobacterium Infections, Nontuberculous / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism*; D019909:Mycobacterium kansasii / Q000302:isolation & purification*; D011044:Poland; D035781:Siblings; D055815:Young Adult
D018664:Interleukin-12; D007371:Interferon-gamma