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Sunderland Repository records the research produced by the University of Sunderland including practice-based research and theses.

Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing.

Engelhardt, Karin R, Xu, Yaobo, Grainger, Angela, Germani Batacchi, Mila G C, Swan, David, Willet, Joseph D P, Abd Hamid, Intan J, Agyeman, Philipp, Barge, Dawn, Bibi, Shahnaz, Jenkins, Lucy, Flood, Terence J, Abinun, Mario, Slatter, Mary A, Gennery, Andrew R, Cant, Andrew J, Santibanez Koref, Mauro, Gilmour, Kimberly and Hambleton, Sophie (2017) Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing. Journal of clinical immunology, 37 (1). pp. 42-50. ISSN 1573-2592

Item Type: Article



We aimed to achieve a retrospective molecular diagnosis by applying state-of-the-art genomic sequencing methods to past patients with T-B+NK+ severe combined immunodeficiency (SCID). We included identification of copy number variations (CNVs) by whole exome sequencing (WES) using the CNV calling method ExomeDepth to detect gene alterations for which routine Sanger sequencing analysis is not suitable, such as large heterozygous deletions.


Of a total of 12 undiagnosed patients with T-B+NK+ SCID, we analyzed eight probands by WES, using GATK to detect single nucleotide variants (SNVs) and small insertions and deletions (INDELs) and ExomeDepth to detect CNVs.


We found heterozygous single- or multi-exon deletions in IL7R, a known disease gene for autosomal recessive T-B+NK+ SCID, in four families (seven patients). In three families (five patients), these deletions coexisted with a heterozygous splice site or nonsense mutation elsewhere in the same gene, consistent with compound heterozygosity. In our cohort, about a quarter of T-B+NK+ SCID patients (26%) had such compound heterozygous IL7R deletions.


We show that heterozygous IL7R exon deletions are common in T-B+NK+ SCID and are detectable by WES. They should be considered if Sanger sequencing fails to detect homozygous or compound heterozygous IL7R SNVs or INDELs.

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More Information

Depositing User: David Swan


Item ID: 16669
Identification Number:
ISSN: 1573-2592
Official URL:

Users with ORCIDS

ORCID for David Swan: ORCID iD

Catalogue record

Date Deposited: 05 Oct 2023 12:59
Last Modified: 09 Oct 2023 09:43


Author: David Swan ORCID iD
Author: Karin R Engelhardt
Author: Yaobo Xu
Author: Angela Grainger
Author: Mila G C Germani Batacchi
Author: Joseph D P Willet
Author: Intan J Abd Hamid
Author: Philipp Agyeman
Author: Dawn Barge
Author: Shahnaz Bibi
Author: Lucy Jenkins
Author: Terence J Flood
Author: Mario Abinun
Author: Mary A Slatter
Author: Andrew R Gennery
Author: Andrew J Cant
Author: Mauro Santibanez Koref
Author: Kimberly Gilmour
Author: Sophie Hambleton

University Divisions

Faculty of Health Sciences and Wellbeing > School of Medicine


Sciences > Biomedical Sciences

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