A novel truncating mutation in MYD88 in a patient with BCG adenitis, neutropenia and delayed umbilical cord separation

Mutations in MYD88 cause susceptibility to invasive bacterial infections through impaired signaling downstream of toll-like receptors (TLRs) and IL-1 receptors. We studied a patient presenting with neutropenia, delayed umbilical cord separation, BCG adenitis, and P. aeruginosa pneumonia. Next-genera...

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Pubblicato in:Clin Immunol
Autori principali: Platt, Craig D., Zaman, Fatima, Wallace, Jacqueline G., Seleman, Michael, Chou, Janet, Sukaiti, Nashat Al, Geha, Raif S.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2019
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6736735/
https://ncbi.nlm.nih.gov/pubmed/31301515
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.clim.2019.07.004
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