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

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Sabah BoudjemaaJacinta Bustamante

Abstract

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.

References

Oct 13, 2001·The Journal of Pediatrics·J D EdgarD S Kumararatne
Feb 28, 2002·Annual Review of Immunology·Jean-Laurent Casanova, Laurent Abel
Jun 2, 2012·Current Opinion in Immunology·Stephanie Boisson-DupuisJean-Laurent Casanova

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Citations

Mar 6, 2018·Critical Reviews in Clinical Laboratory Sciences·Ana Esteve-SoléJacinta Bustamante
Sep 29, 2018·Immunology and Cell Biology·Jérémie RosainJacinta Bustamante
Jul 27, 2017·Human Mutation·Esther van de Vosse, Jaap T van Dissel
Jul 14, 2020·Immunology and Allergy Clinics of North America·Francisco A Bonilla

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Methods Mentioned

BETA
X-ray
biopsies
biopsy
exome sequencing
Assay

Software Mentioned

CADD
Polyphen
SIFT

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