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

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dc.contributor.authorGreybe, Leonore
dc.contributor.authorLeung, Daniel
dc.contributor.authorWieselthaler, Nicole
dc.contributor.authorle Roux, David M.
dc.contributor.authorChan, Koon W.
dc.contributor.authorLau, Yu L.
dc.contributor.authorEley, Brian
dc.date.accessioned2023-08-08T13:42:10Z
dc.date.available2023-08-08T13:42:10Z
dc.date.issued2023-07-29
dc.date.updated2023-07-30T03:15:14Z
dc.description.abstractAbstract 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.en_US
dc.identifier.apacitationGreybe, L., Leung, D., Wieselthaler, N., le Roux, David M., Chan, Koon W., Lau, Yu L., & Eley, B. (2023). A rare mutation causing autosomal dominant STAT1 deficiency in a South African multiplex kindred with disseminated BCG infection. <i>BMC Pediatrics</i>, 23(1), 378. http://hdl.handle.net/11427/38216en_ZA
dc.identifier.chicagocitationGreybe, Leonore, Daniel Leung, Nicole Wieselthaler, David M. le Roux, Koon W. Chan, Yu L. Lau, and Brian Eley "A rare mutation causing autosomal dominant STAT1 deficiency in a South African multiplex kindred with disseminated BCG infection." <i>BMC Pediatrics</i> 23, 1. (2023): 378. http://hdl.handle.net/11427/38216en_ZA
dc.identifier.citationBMC Pediatrics. 2023 Jul 29;23(1):378
dc.identifier.ris TY - Journal Article AU - Greybe, Leonore AU - Leung, Daniel AU - Wieselthaler, Nicole AU - le Roux, David M. AU - Chan, Koon W. AU - Lau, Yu L. AU - Eley, Brian AB - 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. DA - 2023-07-29 DB - OpenUCT DP - University of Cape Town IS - 1 J1 - BMC Pediatrics KW - BCG complications KW - BCG osteomyelitis KW - Disseminated BCG KW - STAT1 deficiency KW - STAT1 mutation KW - MSMD KW - Pediatrics LK - https://open.uct.ac.za PY - 2023 T1 - A rare mutation causing autosomal dominant STAT1 deficiency in a South African multiplex kindred with disseminated BCG infection TI - A rare mutation causing autosomal dominant STAT1 deficiency in a South African multiplex kindred with disseminated BCG infection UR - http://hdl.handle.net/11427/38216 ER - en_ZA
dc.identifier.urihttps://doi.org/10.1186/s12887-023-04206-8
dc.identifier.urihttp://hdl.handle.net/11427/38216
dc.identifier.vancouvercitationGreybe L, Leung D, Wieselthaler N, le Roux David M, Chan Koon W, Lau Yu L, et al. A rare mutation causing autosomal dominant STAT1 deficiency in a South African multiplex kindred with disseminated BCG infection. BMC Pediatrics. 2023;23(1):378. http://hdl.handle.net/11427/38216.en_ZA
dc.language.rfc3066en
dc.rights.holderThe Author(s)
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/en_US
dc.sourceBMC Pediatricsen_US
dc.source.journalissue1en_US
dc.source.journalvolume23en_US
dc.source.pagination378en_US
dc.source.urihttps://bmcpediatr.biomedcentral.com/
dc.subjectBCG complicationsen_US
dc.subjectBCG osteomyelitisen_US
dc.subjectDisseminated BCGen_US
dc.subjectSTAT1 deficiencyen_US
dc.subjectSTAT1 mutationen_US
dc.subjectMSMDen_US
dc.subjectPediatricsen_US
dc.titleA rare mutation causing autosomal dominant STAT1 deficiency in a South African multiplex kindred with disseminated BCG infectionen_US
dc.typeJournal Articleen_US
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