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Title of Journal: Eur J Pediatr

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Abbravation: European Journal of Pediatrics

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Springer-Verlag

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DOI

10.1002/9781118888438.ch236

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1432-1076

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Analysis of the interleukin12/interferonγ pathwa

Authors: Francis Serour Avraham Mizrahi Eli Somekh Jacqueline Feinberg Capucine Picard JeanLaurent Casanova Ilan Dalal
Publish Date: 2006/11/21
Volume: 166, Issue: 8, Pages: 835-
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Abstract

Genetic defects along the interleukin IL12/interferon IFN−γ pathway have been found in patients with mendelian susceptibility to mycobacterial disease MSMD caused by live BCG vaccine or nontuberculous Mycobacterium NTM species highlighting the crucial role of this axis in human immunity to Mycobacterium The aims of this study were to characterize healthy children presenting with cervical lymphadenitis caused by NTM and to investigate their IL12/IFNγ pathway Epidemiological clinical laboratory and pathological findings were reviewed retrospectively Blood samples from five patients and healthy controls were in vitro activated with BCG BCG + IL12 and BCG + IFNγ and levels of IL12p40 and IFNγ were measured Fourteen patients 11 males median age 24 months range 12–78 months were studied The mean duration of illness before diagnosis was 91 weeks Mycobacterium tuberculosis purified protein derivate PPD was positive in all patients mean 145 ± 98 mm Caseous granuloma was found in all ten patients who underwent excision biopsy However acid fast stain was positive in only five children and cultures were positive in only three cases The amplified M tuberculosis direct test was negative in all tested cases No significant differences in IL12p40 and IFNγ levels were found between patients and controls In spite of the normal response as measured in the screening test it is still possible that patients might have a monogenic/mendelian disease for which the genetic defects have yet to be elucidated Alternatively some single nucleotide polymorphisms along the IL12/IFNγ axis might be associated with an isolated cervical lymph node infection and not a disseminated disease in children

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