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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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| Publicado no: | Expert Opin Orphan Drugs |
|---|---|
| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2017
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| Assuntos: | |
| Acesso em linha: | 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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