Caricamento...

Concomitant diagnosis of immune deficiency and Pseudomonas sepsis in a 19 month old with ecthyma gangrenosum by host whole-genome sequencing

X-linked agammaglobulinemia (XLA, OMIM#300300) is a rare monogenic primary immunodeficiency caused by mutations in the Bruton tyrosine kinase (BTK) gene. XLA is characterized by insufficient immunoglobulin levels and susceptibility to life-threatening bacterial infections. We report on a patient tha...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:Cold Spring Harb Mol Case Stud
Autori principali: Sanford, Erica, Farnaes, Lauge, Batalov, Serge, Bainbridge, Matthew, Laubach, Susan, Worthen, H. Michael, Tokita, Mari, Kingsmore, Stephen F., Bradley, John
Natura: Artigo
Lingua:Inglês
Pubblicazione: Cold Spring Harbor Laboratory Press 2018
Soggetti:
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6318772/
https://ncbi.nlm.nih.gov/pubmed/30559311
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a003244
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !