Late-Onset Non-HLH Presentations of Growth Arrest, Inflammatory Arachnoiditis, and Severe Infectious Mononucleosis, in Siblings with Hypomorphic Defects in UNC13D

Bi-allelic null mutations affecting UNC13D, STXBP2, or STX11 result in defects of lymphocyte cytotoxic degranulation and commonly cause familial hemophagocytic lymphohistiocytosis (FHL) in early life. Patients with partial loss of function are increasingly being diagnosed after presenting with alter...

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Detalles Bibliográficos
Autores principales: Gray, Paul Edgar, Shadur, Bella, Russell, Susan, Mitchell, Richard, Buckley, Michael, Gallagher, Kerri, Andrews, Ian, Thia, Kevin, Trapani, Joseph A., Kirk, Edwin Philip, Voskoboinik, Ilia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2017
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5552658/
https://www.ncbi.nlm.nih.gov/pubmed/28848550
http://dx.doi.org/10.3389/fimmu.2017.00944

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5552658/
https://www.ncbi.nlm.nih.gov/pubmed/28848550
http://dx.doi.org/10.3389/fimmu.2017.00944

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