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ISSN: 1426-3912
Central European Journal of Immunology
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vol. 37

Affiliation of the J Project Group to the Central European Journal of Immunology

László Maródi

(Centr Eur J Immunol 2012; 37 (4): 295-297)
Online publish date: 2013/02/10
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The Editorial Board of the Central European Journal of Immunology (CEJI) has recently approved the affiliation of the J PROJECT Group to the Journal. The CEJI will now provide a new forum for publishing and discussing primary immunodeficiency (PID)-related research in Eastern and Central European (ECE) countries and elsewhere. Now that the J Project has an “official” journal, its professional leaders and members are encouraged to publish not only their original research in the field, but also instructive case reports and registry data, such as those published in this issue [1, 2].

Mendelian susceptibility to mycobacterial disease phenotypes and genotypes

Mendelian susceptibility to mycobacterial disease (MSMD) is now well established as a group of potentially fatal rare congenital disorders/conditions involving a selective predisposition to weakly virulent mycobacteria [3]. Most affected individuals are susceptible to nontuberculous environmental mycobacteria (EM), which are also known as atypical mycobacteria, and to severe clinical disease caused by Bacille Calmette-Guérin (BCG) vaccines, but they are otherwise healthy. They may also present invasive salmonellosis and, less frequently, pulmonary and extrapulmonary infection with Mycobacterium tuberculosis.

Other infections are rare. MSMD due to complete interferon (IFN)-γR1 deficiency was first described by two independent groups in 1996 [4, 5]. Mutations of IFNGR1 may be inherited as autosomal recessive and autosomal dominant traits (Table 1). Mutation affecting the IFN-γ signaling receptor chain (IFN-γR2) was first identified in 1998 [6] and, subsequently, four additional recessive, two dominant and one X-linked MSMD gene have been identified [3, 7-9] (Table 1). These reports highlight the role of the IFN-γ - IL-12 circuit in general, and of IFN-γ, a pleiotropic cytokine, in particular, in controlling invasive infection due to mycobacteria and other intracellular parasites. Human IFN-γ appears to activate macrophages more strongly than antiviral IFN. The severity of clinical disease due to mutations of MSMD genes varies between affected individuals and genotypes (Table 1). However, no genetic etiology has yet been defined for about half the patients with MSMD.

Al-Muhsen and Casanova recently surveyed the geographic origins of patients with MSMD and found that cases had been reported in 44 countries, on six different continents [3]. This broad...

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