A copy of this work was available on the public web and has been preserved in the Wayback Machine. The capture dates from 2020; you can also visit <a rel="external noopener" href="http://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC5941932&blobtype=pdf">the original URL</a>. The file type is <code>application/pdf</code>.
RAG deficiency with ALPS features successfully treated with TCRαβ/CD19 cell depleted haploidentical stem cell transplant
<span title="">2018</span>
<i title="Elsevier BV">
<a target="_blank" rel="noopener" href="https://fatcat.wiki/container/zgmk5wfinva3pnhwmh2p3xgzoq" style="color: black;">Clinical Immunology</a>
</i>
Preserved Fulltext
Recombination activating genes 1 and 2 (RAG) proteins are involved in generating diversity of T-and B-cell receptors via recombination of variable, diversity, and joining (VDJ) gene segments. RAG mutations can manifest with a variety of clinical presentations. Some patients with near complete RAG deficiency, often due to bi-allelic nonsense or frameshift mutations, develop severe infections within the first year of life and are diagnosed with
<span class="external-identifiers">
<a target="_blank" rel="external noopener noreferrer" href="https://doi.org/10.1016/j.clim.2017.10.012">doi:10.1016/j.clim.2017.10.012</a>
<a target="_blank" rel="external noopener" href="https://www.ncbi.nlm.nih.gov/pubmed/29104089">pmid:29104089</a>
<a target="_blank" rel="external noopener" href="https://pubmed.ncbi.nlm.nih.gov/PMC5941932/">pmcid:PMC5941932</a>
<a target="_blank" rel="external noopener" href="https://fatcat.wiki/release/h7xwh4yucnhvxijlcyci2vfixu">fatcat:h7xwh4yucnhvxijlcyci2vfixu</a>
</span>
<a target="_blank" rel="noopener" href="https://web.archive.org/web/20200502175142/http://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC5941932&blobtype=pdf" title="fulltext PDF download" data-goatcounter-click="serp-fulltext" data-goatcounter-title="serp-fulltext">
<button class="ui simple right pointing dropdown compact black labeled icon button serp-button">
<i class="icon ia-icon"></i>
Web Archive
[PDF]
<div class="menu fulltext-thumbnail">
<img src="https://blobs.fatcat.wiki/thumbnail/pdf/3a/9f/3a9f9244680d9ded166e70f2a8b85fab378370a3.180px.jpg" alt="fulltext thumbnail" loading="lazy">
</div>
</button>
</a>
<a target="_blank" rel="external noopener noreferrer" href="https://doi.org/10.1016/j.clim.2017.10.012">
<button class="ui left aligned compact blue labeled icon button serp-button">
<i class="external alternate icon"></i>
elsevier.com
</button>
</a>
<a target="_blank" rel="external noopener" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5941932" title="pubmed link">
<button class="ui compact blue labeled icon button serp-button">
<i class="file alternate outline icon"></i>
pubmed.gov
</button>
</a>