A rare mutation causing autosomal dominant STAT1 deficiency in a South African multiplex kindred with disseminated BCG infection
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-Sahar...
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2023-07-01
|
| Series: | BMC Pediatrics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12887-023-04206-8 |
| _version_ | 1797769284624056320 |
|---|---|
| author | Leonore Greybe Daniel Leung Nicole Wieselthaler David M le Roux Koon Wing Chan Yu Lung Lau Brian Eley |
| author_facet | Leonore Greybe Daniel Leung Nicole Wieselthaler David M le Roux Koon Wing Chan Yu Lung Lau Brian Eley |
| author_sort | Leonore Greybe |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-12T21:06:41Z |
| format | Article |
| id | doaj.art-2024f9d0d9a0414ea71efc9b43e98d25 |
| institution | Directory Open Access Journal |
| issn | 1471-2431 |
| language | English |
| last_indexed | 2024-03-12T21:06:41Z |
| publishDate | 2023-07-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Pediatrics |
| spelling | doaj.art-2024f9d0d9a0414ea71efc9b43e98d252023-07-30T11:24:52ZengBMCBMC Pediatrics1471-24312023-07-012311610.1186/s12887-023-04206-8A rare mutation causing autosomal dominant STAT1 deficiency in a South African multiplex kindred with disseminated BCG infectionLeonore Greybe0Daniel Leung1Nicole Wieselthaler2David M le Roux3Koon Wing Chan4Yu Lung Lau5Brian Eley6Paediatric Infectious Diseases Unit, Red Cross War Memorial Children’s HospitalDepartment of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Faculty of Medicine, Li Ka Shing, The University of Hong KongDepartment of Radiology, University of Cape TownDepartment of Paediatrics and Child Health, University of Cape TownDepartment of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Faculty of Medicine, Li Ka Shing, The University of Hong KongDepartment of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Faculty of Medicine, Li Ka Shing, The University of Hong KongPaediatric Infectious Diseases Unit, Red Cross War Memorial Children’s HospitalAbstract 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.https://doi.org/10.1186/s12887-023-04206-8BCG complicationsBCG osteomyelitisDisseminated BCGSTAT1 deficiencySTAT1 mutationMSMD |
| spellingShingle | Leonore Greybe Daniel Leung Nicole Wieselthaler David M le Roux Koon Wing Chan Yu Lung Lau Brian Eley A rare mutation causing autosomal dominant STAT1 deficiency in a South African multiplex kindred with disseminated BCG infection BMC Pediatrics BCG complications BCG osteomyelitis Disseminated BCG STAT1 deficiency STAT1 mutation MSMD |
| title | A rare mutation causing autosomal dominant STAT1 deficiency in a South African multiplex kindred with disseminated BCG infection |
| title_full | A rare mutation causing autosomal dominant STAT1 deficiency in a South African multiplex kindred with disseminated BCG infection |
| title_fullStr | A rare mutation causing autosomal dominant STAT1 deficiency in a South African multiplex kindred with disseminated BCG infection |
| title_full_unstemmed | A rare mutation causing autosomal dominant STAT1 deficiency in a South African multiplex kindred with disseminated BCG infection |
| title_short | A rare mutation causing autosomal dominant STAT1 deficiency in a South African multiplex kindred with disseminated BCG infection |
| title_sort | rare mutation causing autosomal dominant stat1 deficiency in a south african multiplex kindred with disseminated bcg infection |
| topic | BCG complications BCG osteomyelitis Disseminated BCG STAT1 deficiency STAT1 mutation MSMD |
| url | https://doi.org/10.1186/s12887-023-04206-8 |
| work_keys_str_mv | AT leonoregreybe araremutationcausingautosomaldominantstat1deficiencyinasouthafricanmultiplexkindredwithdisseminatedbcginfection AT danielleung araremutationcausingautosomaldominantstat1deficiencyinasouthafricanmultiplexkindredwithdisseminatedbcginfection AT nicolewieselthaler araremutationcausingautosomaldominantstat1deficiencyinasouthafricanmultiplexkindredwithdisseminatedbcginfection AT davidmleroux araremutationcausingautosomaldominantstat1deficiencyinasouthafricanmultiplexkindredwithdisseminatedbcginfection AT koonwingchan araremutationcausingautosomaldominantstat1deficiencyinasouthafricanmultiplexkindredwithdisseminatedbcginfection AT yulunglau araremutationcausingautosomaldominantstat1deficiencyinasouthafricanmultiplexkindredwithdisseminatedbcginfection AT brianeley araremutationcausingautosomaldominantstat1deficiencyinasouthafricanmultiplexkindredwithdisseminatedbcginfection AT leonoregreybe raremutationcausingautosomaldominantstat1deficiencyinasouthafricanmultiplexkindredwithdisseminatedbcginfection AT danielleung raremutationcausingautosomaldominantstat1deficiencyinasouthafricanmultiplexkindredwithdisseminatedbcginfection AT nicolewieselthaler raremutationcausingautosomaldominantstat1deficiencyinasouthafricanmultiplexkindredwithdisseminatedbcginfection AT davidmleroux raremutationcausingautosomaldominantstat1deficiencyinasouthafricanmultiplexkindredwithdisseminatedbcginfection AT koonwingchan raremutationcausingautosomaldominantstat1deficiencyinasouthafricanmultiplexkindredwithdisseminatedbcginfection AT yulunglau raremutationcausingautosomaldominantstat1deficiencyinasouthafricanmultiplexkindredwithdisseminatedbcginfection AT brianeley raremutationcausingautosomaldominantstat1deficiencyinasouthafricanmultiplexkindredwithdisseminatedbcginfection |