作者
Hye Sun Kuehn, Bertrand Boisson, Charlotte Cunningham-Rundles, Janine Reichenbach, Asbjørg Stray-Pedersen, Erwin W Gelfand, Patrick Maffucci, Keith R Pierce, Jordan K Abbott, Karl V Voelkerding, Sarah T South, Nancy H Augustine, Jeana S Bush, William K Dolen, Betty B Wray, Yuval Itan, Aurelie Cobat, Hanne Sørmo Sorte, Sundar Ganesan, Seraina Prader, Thomas B Martins, Monica G Lawrence, Jordan S Orange, Katherine R Calvo, Julie E Niemela, Jean-Laurent Casanova, Thomas A Fleisher, Harry R Hill, Attila Kumánovics, Mary Ellen Conley, Sergio D Rosenzweig
发表日期
2016/3/17
期刊
New England Journal of Medicine
卷号
374
期号
11
页码范围
1032-1043
出版商
Massachusetts Medical Society
简介
Background
Common variable immunodeficiency (CVID) is characterized by late-onset hypogammaglobulinemia in the absence of predisposing factors. The genetic cause is unknown in the majority of cases, and less than 10% of patients have a family history of the disease. Most patients have normal numbers of B cells but lack plasma cells.
Methods
We used whole-exome sequencing and array-based comparative genomic hybridization to evaluate a subset of patients with CVID and low B-cell numbers. Mutant proteins were analyzed for DNA binding with the use of an electrophoretic mobility-shift assay (EMSA) and confocal microscopy. Flow cytometry was used to analyze peripheral-blood lymphocytes and bone marrow aspirates.
Results
Six different heterozygous mutations in IKZF1, the gene encoding the transcription factor IKAROS, were identified in 29 persons from six families. In two families, the mutation …
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HS Kuehn, B Boisson, C Cunningham-Rundles… - New England Journal of Medicine, 2016