eISSN: 1644-4124
ISSN: 1426-3912
Central European Journal of Immunology
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4/2012
vol. 37
 
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abstract:

Clinical immunology
Disseminated Mycobacterium tuberculosis complex infection in a girl with partial dominant IFN-γ receptor 1 deficiency

Małgorzata Pac
,
Jacinta Bustamante
,
Piotr Buda
,
Anna Wieteska-Klimczak
,
Jerzy Ziołkowski
,
Maria Krasińska
,
Bożena Lipka
,
Maja Klaudel-Dreszler
,
Jean-Laurent Casanova
,
Barbara Piątosa
,
Anna Kamińska
,
Ewa Bernatowska

(Centr Eur J Immunol 2012; 37 (4): 378-381)
DOI: https://doi.org/10.5114/ceji.2012.32667
Online publish date: 2013/02/10
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We describe here a girl who was vaccinated at birth with BCG (Bacillus Calmette-Guérin) vaccine according to national immunization schedule in Poland. After the age of 2.5 m.o., she developed disseminated BCG infection. Primary immunodeficiencies (PID), such as severe combined immunodeficiency (SCID), chronic granulomatous disease (CGD), hyper IgM syndrome (HIGM), hyper IgE syndrome (HIES) were excluded. The diagnostic tests exploring IFN-γ/IL-12 axis were performed.

The 818del4, the most common basis of IFNGR1 deficiency was found.
keywords:

BCG, IFNGR, osteomyelitis, primary immunodeficiency
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