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

@article{Gray2017LateOnsetNP,
  title={Late-Onset Non-HLH Presentations of Growth Arrest, Inflammatory Arachnoiditis, and Severe Infectious Mononucleosis, in Siblings with Hypomorphic Defects in UNC13D},
  author={Paul E. Gray and Bella Shadur and Susan J Russell and Richard Mitchell and Michael Buckley and Kerri Gallagher and Ian Andrews and Kevin Y. T. Thia and Joseph A. Trapani and Edwin P. Kirk and Ilia Voskoboinik},
  journal={Frontiers in Immunology},
  year={2017},
  volume={8}
}
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 alternative features of this disease, or with HLH later in life. Here, we studied two sisters with lymphocyte degranulation defects secondary to compound heterozygote missense variants in UNC13D. The… 

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TLDR
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TLDR
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TLDR
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