A novel homozygous JAK3 mutation leading to T-B+NK– SCID in two brazilian patients (2018)
- Authors:
- USP affiliated authors: ROXO JÚNIOR, PÉRSIO - FMRP ; CONDINO NETO, ANTONIO - ICB ; BARREIROS, LUCILA AKUNE - ICB
- Unidades: FMRP; ICB
- DOI: 10.3389/fped.2018.00230
- Subjects: TRIAGEM; NEONATOLOGIA; SEQUENCIAMENTO GENÉTICO; SISTEMA IMUNE
- Keywords: Primary immunodeficiency; Severe combined immunodeficiency; SCID; JAK3; Newborn screening
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Source:
- Título: Frontiers in Pediatrics
- ISSN: 2296-2360
- Volume/Número/Paginação/Ano: v. 6, art. 230, 2018
- Status:
- Artigo publicado em periódico de acesso aberto (Gold Open Access)
- Versão do Documento:
- Versão publicada (Published version)
- Acessar versão aberta:
-
ABNT
BARREIROS, Lucila Akune et al. A novel homozygous JAK3 mutation leading to T-B+NK– SCID in two brazilian patients. Frontiers in Pediatrics, v. 6, 2018Tradução . . Disponível em: https://doi.org/10.3389/fped.2018.00230. Acesso em: 31 mar. 2026. -
APA
Barreiros, L. A., Segundo, G. R. S., Grumach, A. S., Roxo-Junior, P., Torgerson, T. R., Ochs, H. D., & Condino Neto, A. (2018). A novel homozygous JAK3 mutation leading to T-B+NK– SCID in two brazilian patients. Frontiers in Pediatrics, 6. doi:10.3389/fped.2018.00230 -
NLM
Barreiros LA, Segundo GRS, Grumach AS, Roxo-Junior P, Torgerson TR, Ochs HD, Condino Neto A. A novel homozygous JAK3 mutation leading to T-B+NK– SCID in two brazilian patients [Internet]. Frontiers in Pediatrics. 2018 ; 6[citado 2026 mar. 31 ] Available from: https://doi.org/10.3389/fped.2018.00230 -
Vancouver
Barreiros LA, Segundo GRS, Grumach AS, Roxo-Junior P, Torgerson TR, Ochs HD, Condino Neto A. A novel homozygous JAK3 mutation leading to T-B+NK– SCID in two brazilian patients [Internet]. Frontiers in Pediatrics. 2018 ; 6[citado 2026 mar. 31 ] Available from: https://doi.org/10.3389/fped.2018.00230 - The panorama in diagnoses of severe combined immunodeficiency begins to change in Brazil
- Severe combined immunodeficiency in Brazil: management, prognosis, and BCG-associated complications
- Doctors' awareness concerning primary immunodeficiencies in Brazil
- The awareness of pediatricians concerning primary immunodeficiency diseases in Brazil before and after an education program
- Clinical and genotypic spectrum of chronic granulomatous disease in 71 Latin American patients: first report from the LASID registry
- First report of the hyper-IgM syndrome registry of the Latin American Society for Immunodeficiencies: novel mutations, unique infections, and outcomes
- Doctors’ awareness concerning primary immunodeficiencies in Brazil
- High-performance liquid chromatography under partially denaturing conditions (dHPLC) is a fast and cost effective method for screening molecular defects: four novel mutations found in x-linked chronic granulomatous disease
- SCID and other inborn errors of immunity with Low TRECs — the Brazilian experience
- Fatores genéticos e imunológicos relacionados a Síndrome Congênita do Zika em humanos
Informações sobre a disponibilidade de versões do artigo em acesso aberto coletadas automaticamente via oaDOI API (Unpaywall).
Por se tratar de integração com serviço externo, podem existir diferentes versões do trabalho (como preprints ou postprints), que podem diferir da versão publicada.
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
