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.
Overview
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
Sources
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Labels
Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2016 Issue 7-8
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