INHERITED DISORDERS OF THE INTERLEUKIN-12-LNTERFERON GAMMA AXIS: MENDELIAN PREDISPOSITION TO MYCOBACTERIAL DISEASE IN MAN

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CASANOVA J.L.; FIESCHI C.; PICARD C.; DUPUIS S.; MANSOURI D.

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Journal: TANAFFOS Year:2002 | Volume:1 | Issue:4 Page(s): 9-25

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Title

INHERITED DISORDERS OF THE INTERLEUKIN-12-LNTERFERON GAMMA AXIS: MENDELIAN PREDISPOSITION TO MYCOBACTERIAL DISEASE IN MAN

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Abstract

Over the past 50 years there have been a number of reported cases of severe disseminated infection with weakly virulent mycobacteria in individuals without recognised predisposing immunodeficiency. Mycobacterial species included various environmental mycobacteria (EM), and several M bovis BCG vaccine substrains. High rates of affected siblings and parental consanguinity suggested the existence of a novel primary immunodeficiency syndrome, subsequently named Mendelian susceptibility to mycobacterial disease (MSMD, MIM 209950). Molecular investigation of these families has identified mutations in five genes in the interleukin-I2-dependent interferon-gamma axis highlighting the importance of this pathway in human immunity to mycobacteria. There remain a number of patients for whom a genetic aetiology has yet to be identified, suggesting that mutations in other genes await discovery.

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APA: Copy

CASANOVA, J.L., FIESCHI, C., PICARD, C., DUPUIS, S., & MANSOURI, D.. (2002). INHERITED DISORDERS OF THE INTERLEUKIN-12-LNTERFERON GAMMA AXIS: MENDELIAN PREDISPOSITION TO MYCOBACTERIAL DISEASE IN MAN. TANAFFOS, 1(4), 9-25. SID. https://sid.ir/paper/532316/en

Vancouver: Copy

CASANOVA J.L., FIESCHI C., PICARD C., DUPUIS S., MANSOURI D.. INHERITED DISORDERS OF THE INTERLEUKIN-12-LNTERFERON GAMMA AXIS: MENDELIAN PREDISPOSITION TO MYCOBACTERIAL DISEASE IN MAN. TANAFFOS[Internet]. 2002;1(4):9-25. Available from: https://sid.ir/paper/532316/en

IEEE: Copy

J.L. CASANOVA, C. FIESCHI, C. PICARD, S. DUPUIS, and D. MANSOURI, “INHERITED DISORDERS OF THE INTERLEUKIN-12-LNTERFERON GAMMA AXIS: MENDELIAN PREDISPOSITION TO MYCOBACTERIAL DISEASE IN MAN,” TANAFFOS, vol. 1, no. 4, pp. 9–25, 2002, [Online]. Available: https://sid.ir/paper/532316/en

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