Abstract:
INTRODUCTION:Non-homologous end joining gene 1 (NHEJ1) defect is a rare form of primary immune deficiency. Very few cases have been described from around the world. PURPOSE:We are reporting the first family from the Arabian Gulf with three siblings presenting with combined immunodeficiency (CID), microcephaly, and growth retardation due to a novel NHEJ1 splice site mutation, in addition to a review of the previously published literature on this subject. METHODS:Patients' clinical, immunological, and laboratory features were examined. Samples were subjected to targeted next-generation sequencing (NGS). The pathogenic change in NHEJ1 was confirmed by Sanger sequencing, then further assessed at the RNA and protein levels. RESULTS:Patients were found to have a homozygous splice site mutation immediately downstream of exon 3 in NHEJ1 (c.390 + 1G > C). This led to two distinct mRNA products, one of which demonstrated skipping of the last 69 basepairs (bp) of exon 3 while the other showed complete skipping of the entire exon. Although both deletions were in-frame, immunoblotting did not reveal any NHEJ1 protein products in patient cells, indicating a null phenotype. CONCLUSION:Patients presenting with CID, microcephaly, and growth retardation should be screened for NHEJ1 gene mutations. We discuss our data in the context of one of our patients who is still alive at the age of 30 years, without transplantation, and who is the longest known survivor of this disease.
journal_name
J Clin Immunoljournal_title
Journal of clinical immunologyauthors
Sheikh F,Hawwari A,Alhissi S,Al Gazlan S,Al Dhekri H,Rehan Khaliq AM,Borrero E,El-Baik L,Arnaout R,Al-Mousa H,Alazami AMdoi
10.1007/s10875-017-0423-5subject
Has Abstractpub_date
2017-08-01 00:00:00pages
575-581issue
6eissn
0271-9142issn
1573-2592pii
10.1007/s10875-017-0423-5journal_volume
37pub_type
杂志文章,评审abstract::Early treatment intervention during human immunodeficiency virus (HIV) infection is a strategy aimed to preserve and/or enhance the developing anti-HIV immune responses. We report the effect of highly active antiretroviral therapy (HAART) combined with intermittent subcutaneous doses of Interleukin 2 (IL-2) on CD8(+) ...
journal_title:Journal of clinical immunology
pub_type: 临床试验,杂志文章
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pub_type: 临床试验,杂志文章,多中心研究
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更新日期:2011-10-01 00:00:00
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journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-015-0169-x
更新日期:2015-07-01 00:00:00
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pub_type: 杂志文章,多中心研究
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pub_type: 杂志文章,评审
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pub_type: 杂志文章
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