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Pathogenesis, diagnosis and therapeutic strategies in WHIM syndrome immunodeficiency

2.1 INTRODUCTION: WHIM syndrome is a rare combined primary immunodeficiency disorder caused by autosomal dominant gain-of-function mutations in the chemokine receptor CXCR4. It is the only Mendelian condition known to be caused by mutation of a chemokine or chemokine receptor. As such, it provides a...

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Podrobná bibliografie
Vydáno v:Expert Opin Orphan Drugs
Hlavní autoři: Heusinkveld, Lauren E., Yim, Erin, Yang, Alexander, Azani, Ari B., Liu, Qian, Gao, Ji-Liang, McDermott, David H., Murphy, Philip M.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2017
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5648064/
https://ncbi.nlm.nih.gov/pubmed/29057173
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/21678707.2017.1375403
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