J Clin Immunol (2017) 37:575–581 DOI 10.1007/s10875-017-0423-5 ORIGINAL ARTICLE Loss of NHEJ1 Protein Due to a Novel Splice Site Mutation in a Family Presenting with Combined Immunodeficiency, Microcephaly, and Growth Retardation and Literature Review 1 2,3 3 1 Farrukh Sheikh & Abbas Hawwari & Safa Alhissi & Sulaiman Al Gazlan & 4 1,5 3,6 3 Hasan Al Dhekri & Agha M. Rehan Khaliq & Esteban Borrero & Lina El-Baik & 1,5 4,5,7 3,7 Rand Arnaout & Hamoud Al-Mousa & Anas M. Alazami Received: 10 November 2016 /Accepted: 13 July 2017 /Published online: 24 July 2017 Springer Science+Business Media, LLC 2017 Abstract next-generation sequencing (NGS). The pathogenic change in Introduction Non-homologous end joining gene 1 (NHEJ1) NHEJ1 was confirmed by Sanger sequencing, then further defect is a rare form of primary immune deficiency. Very few assessed at the RNA and protein levels. cases have been described from around the world. Results Patients were found to have a homozygous splice site Purpose We are reporting the first family from the Arabian mutation immediately downstream of exon 3 in NHEJ1 (c.390 + Gulf with three siblings presenting with combined immuno- 1G > C). This led to two distinct mRNA products, one of
Journal of Clinical Immunology – Springer Journals
Published: Jul 24, 2017
It’s your single place to instantly
discover and read the research
that matters to you.
Enjoy affordable access to
over 18 million articles from more than
15,000 peer-reviewed journals.
All for just $49/month
Query the DeepDyve database, plus search all of PubMed and Google Scholar seamlessly
Save any article or search result from DeepDyve, PubMed, and Google Scholar... all in one place.
Get unlimited, online access to over 18 million full-text articles from more than 15,000 scientific journals.
Read from thousands of the leading scholarly journals from SpringerNature, Elsevier, Wiley-Blackwell, Oxford University Press and more.
All the latest content is available, no embargo periods.
“Hi guys, I cannot tell you how much I love this resource. Incredible. I really believe you've hit the nail on the head with this site in regards to solving the research-purchase issue.”Daniel C.
“Whoa! It’s like Spotify but for academic articles.”@Phil_Robichaud
“I must say, @deepdyve is a fabulous solution to the independent researcher's problem of #access to #information.”@deepthiw
“My last article couldn't be possible without the platform @deepdyve that makes journal papers cheaper.”@JoseServera