NEIL1 is a candidate gene associated with common variable immunodeficiency in a patient with a chromosome 15q24 deletion

Bibliographische Detailangaben
Veröffentlicht in:	Clinical immunology (Orlando, Fla.). - 1999. - 176(2017) vom: 01. März, Seite 71-76
1. Verfasser:	Romano, Rosa (VerfasserIn)
Weitere Verfasser:	Zaravinos, Apostolos, Liadaki, Kyriaki, Caridha, Rozina, Lundin, Johanna, Carlsson, Göran, Winiarski, Jacek, Pan-Hammarström, Qiang, Hammarström, Lennart
Format:	Online-Aufsatz
Sprache:	English
Veröffentlicht:	2017
Zugriff auf das übergeordnete Werk:	Clinical immunology (Orlando, Fla.)
Schlagworte:	Case Reports Journal Article CVID DNA repair Exome sequencing Immunodeficiency chr15q24 deletion DNA Glycosylases EC 3.2.2.- NEIL1 protein, human

Beschreibung
Zusammenfassung:	Copyright © 2017 Elsevier Inc. All rights reserved. We report the first patient with an interstitial deletion of chromosome 15q24.1-q24.3 associated with common variable immunodeficiency (CVID). The 18-year old female patient's clinical and immunological phenotype was compared with 8 additional previously published patients with chr15q24 deletions. A CGH analysis estimated the deletion to be 3.767Mb in size (chr15: 74,410,916-78,178,418) and the result was confirmed using qRT-PCR. We defined an immune-related commonly deleted region (ICDR) within the chromosomal band 15q24.2, deleted in all four patients with different forms of antibody deficiencies. Mutations in the 14 genes within this ICDR were not identified in the remaining allele in our patient by WES and gene expression analyses showed haploinsufficiency of all the genes. Among these genes, we consider Nei Like DNA Glycosylase 1 (NEIL1) as a likely candidate gene due to its crucial role in B-cell activation and terminal differentiation
Beschreibung:	Date Completed 05.06.2017 Date Revised 05.06.2017 published: Print-Electronic Citation Status MEDLINE
ISSN:	1521-7035
DOI:	10.1016/j.clim.2017.01.006