IFNAR2 Deficiency Causing Dysregulation of NK Cell Functions and Presenting With Hemophagocytic Lymphohistiocytosis

We describe a 2 year old boy with two previously undescribed frameshift mutations in the interferon (IFN)α/β receptor 2 (IFNAR2) gene presenting with hemophagocytic lymphohistiocytosis (HLH) following measles-mumps-rubella vaccination. Functional analyses show the absence of response to type I IFN i...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Front Genet
मुख्य लेखकों: Passarelli, Chiara, Civino, Adele, Rossi, Marianna N., Cifaldi, Loredana, Lanari, Valentina, Moneta, Gian Marco, Caiello, Ivan, Bracaglia, Claudia, Montinaro, Raffaele, Novelli, Antonio, De Benedetti, Fabrizio, Prencipe, Giusi
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Frontiers Media S.A. 2020
विषय:
Genetics
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC7531586/
https://ncbi.nlm.nih.gov/pubmed/33193576
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2020.00937
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