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...

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Publicado en:Cold Spring Harb Mol Case Stud
Autores principales: Sanford, Erica, Farnaes, Lauge, Batalov, Serge, Bainbridge, Matthew, Laubach, Susan, Worthen, H. Michael, Tokita, Mari, Kingsmore, Stephen F., Bradley, John
Formato: Artigo
Lenguaje:Inglês
Publicado: Cold Spring Harbor Laboratory Press 2018
Materias:
Rapid Communication
Acceso en línea: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
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