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Pediatr Dev Pathol. 2017 Jun;20(3):255-261. doi: 10.1177/1093526616686255. Epub 2017 Jan 27.

Disseminated Bacillus Calmette-Guérin Osteomyelitis in Twin Sisters Related to STAT1 Gene Deficiency.

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1 Hôpital d'Enfants Armand Trousseau, France.
2 Université Pierre et Marie Curie, Paris, France.
3 St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY, USA.
4 Laboratory of Human Genetics of Infectious Diseases, Institut National de la Santé et de la Recherche Médicale, Paris, France.
5 Paris Descartes University, Imagine Institute, Paris, France.
6 Howard Hughes Medical Institute, New York, USA.
7 Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, Paris, France.
8 Center for the Study of Primary Immunodeficiencies, Necker Hospital for Sick Children, Paris, France.


Mendelian susceptibility to mycobacterial disease is a rare syndrome characterized by severe clinical infections usually caused by weakly virulent mycobacterial species such as Bacillus Calmette-Guérin vaccines and environmental nontuberculous mycobacteria or more virulent mycobacteria as mycobacterium tuberculosis. Since 1996, 9 genes including 7 autosomal ( STAT1, IFNGR1, IFNGR2, IL12B, IL12RB1, ISG15, and IRF8) and 2 X-linked genes ( NEMO and CYBB) have been identified. Allelic heterogeneity leaded to recognize about 18 genetic diseases with variable clinical phenotypes, but sharing a same physiological mechanism represented by a defect in human IL-12-dependant-INF-γ-mediated immunity. We report here a case of multifocal Bacillus Calmette-Guérin osteomyelitis in a context Mendelian susceptibility to mycobacterial disease mimicking a metastatic neuroblastoma in a child presenting with delayed growth. The investigation of her twin sister showed the same disease. A heterozygous mutation in exon 22 of STAT1 gene was found in both sisters, another sister and the father being healthy and heterozygous for the same mutation.


Bacillus Calmette-Guérin; Mendelian susceptibility to mycobaterial disease; STAT1; osteomyelitis; primary immunodeficiency

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