A rare mutation causing autosomal dominant STAT1 deficiency in a South African multiplex kindred with disseminated BCG infection.
BMC Pediatr
; 23(1): 378, 2023 07 29.
Article
em En
| MEDLINE
| ID: mdl-37516851
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.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Vacina BCG
/
Mães
Limite:
Child
/
Female
/
Humans
/
Male
País/Região como assunto:
Africa
Idioma:
En
Revista:
BMC Pediatr
Assunto da revista:
PEDIATRIA
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
África do Sul