BMC Pediatrics (Jul 2023)

A rare mutation causing autosomal dominant STAT1 deficiency in a South African multiplex kindred with disseminated BCG infection

  • Leonore Greybe,
  • Daniel Leung,
  • Nicole Wieselthaler,
  • David M le Roux,
  • Koon Wing Chan,
  • Yu Lung Lau,
  • Brian Eley

DOI
https://doi.org/10.1186/s12887-023-04206-8
Journal volume & issue
Vol. 23, no. 1
pp. 1 – 6

Abstract

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Abstract Background Autosomal dominant signal transducer and activator of transcription 1 (STAT1) deficiency, part of the Mendelian susceptibility to mycobacterial disease (MSMD) group, frequently causes disseminated Bacillus Calmette-Guérin (BCG) infections, but has not been reported from Sub-Saharan Africa (SSA) where routine birth BCG vaccination is practiced. Case presentation Two half-siblings presented five years apart, with multifocal osteomyelitis as the dominant feature of disseminated BCG, which was successfully treated with antimycobacterial therapy. Whole exome sequencing demonstrated a novel heterozygous substitution in the splice site between intron 13 and exon 14 of the STAT1 gene, NM_007315: c.1128-1G>A, in the proband and his mother and was later confirmed in his half-brother. Conclusions Children with BCG vaccine complications in SSA should be referred for further investigation and particular consideration of MSMD.

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