A Novel Homozygous JAK3 Mutation Leading to T-B+NK– SCID in Two Brazilian Patients

We report a novel homozygous JAK3 mutation in two female Brazilian SCID infants from two unrelated kindreds. Patient 1 was referred at 2 months of age due to a family history of immunodeficiency and the appearance of a facial rash. The infant was screened for TRECs (T-cell receptor excision circles)...

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Dettagli Bibliografici
Pubblicato in:Front Pediatr
Autori principali: Barreiros, Lucila A., Segundo, Gesmar R. S., Grumach, Anete S., Roxo-Júnior, Pérsio, Torgerson, Troy R., Ochs, Hans D., Condino-Neto, Antonio
Natura: Artigo
Lingua:Inglês
Pubblicazione: Frontiers Media S.A. 2018
Soggetti:
Pediatrics
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6109756/
https://ncbi.nlm.nih.gov/pubmed/30177960
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2018.00230
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