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

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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Bibliographic Details
Main Authors: Paul Edgar Gray, Bella Shadur, Susan Russell, Richard Mitchell, Michael Buckley, Kerri Gallagher, Ian Andrews, Kevin Thia, Joseph A. Trapani, Edwin Philip Kirk, Ilia Voskoboinik
Format: Article
Language:English
Published: Frontiers Media S.A. 2017-08-01
Series:Frontiers in Immunology
Subjects:
cytotoxic lymphocytes
HLH
immunodeficiency
hematology
pathology
Online Access:http://journal.frontiersin.org/article/10.3389/fimmu.2017.00944/full

Internet

http://journal.frontiersin.org/article/10.3389/fimmu.2017.00944/full

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