Mendelian Susceptibility to Mycobacterial Diseases

Authors: M. Bloomfield 1;  E. Havránková 1;  H. Houšťková 1;  P. Kabíček 1;  K. Křepela 1;  A. Šedivá 2;  J. Bustamante 3
Authors‘ workplace: Pediatrická klinika IPVZ, 1. LF UK a Thomayerova nemocnice, Praha, přednostka doc. MUDr. H. Houšťková, CSc. 1;  Ústav imunologie 2. LF UK a FN Motol, Praha, přednostka prof. MUDr. J. Bartůňková, DrSc. 2;  Laboratoire de Génétique Humaine des Maladies Infectieuses, Institut National de la Santé et de la Recherche Médicale et Université Paris Descartes, France, vedoucí prof. J. L. Casanova, MD, Ph. D 3
Published in: Čes-slov Pediat 2016; 71 (7-8): 340-344.
Category: Tuberculosis

Kazuistika první pacientky byla přednesena na XI. českém pediatrickém kongresu 20. září 2014.


Mendelian Susceptibility to Mycobacterial Diseases (MSMD) encompasses a newly emerged group of monogenic primary immunodeficiencies caused by defects in IL12-IL23/IFNγ mediated mononuclear phagocyte-Th1 communication pathway. Patients typically display various degree of selective impairment of immunity against mycobacteria (particularly against weakly virulent strains) and nontyphoid salmonellae; other aspects of host defence remain intact. Depending on the specific mutation, the clinical presentation ranges from mild adverse reactions to BCG vaccine to life-threatening disseminated mycobacterial infections and salmonellosis. The following case review reports on first two patients diagnosed with MSMD in the Czech Republic: a girl with IFNγ receptor mutation and a boy with STAT1 loss of function mutation.

Key words:
mendelian susceptibility to mycobacterial diseases, interleukin 12 (IL12), interferon gamma (IFNγ), STAT1, BCG, nontuberculous mycobacteria


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Neonatology Paediatrics General practitioner for children and adolescents
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