Ontology highlight
ABSTRACT:
SUBMITTER: McDermott DH
PROVIDER: S-EPMC4329071 | biostudies-literature | 2015 Feb
REPOSITORIES: biostudies-literature
McDermott David H DH Gao Ji-Liang JL Liu Qian Q Siwicki Marie M Martens Craig C Jacobs Paejonette P Velez Daniel D Yim Erin E Bryke Christine R CR Hsu Nancy N Dai Zunyan Z Marquesen Martha M MM Stregevsky Elina E Kwatemaa Nana N Theobald Narda N Long Priel Debra A DA Pittaluga Stefania S Raffeld Mark A MA Calvo Katherine R KR Maric Irina I Desmond Ronan R Holmes Kevin L KL Kuhns Douglas B DB Balabanian Karl K Bachelerie Françoise F Porcella Stephen F SF Malech Harry L HL Murphy Philip M PM
Cell 20150205 4
Chromothripsis is a catastrophic cellular event recently described in cancer in which chromosomes undergo massive deletion and rearrangement. Here, we report a case in which chromothripsis spontaneously cured a patient with WHIM syndrome, an autosomal dominant combined immunodeficiency disease caused by gain-of-function mutation of the chemokine receptor CXCR4. In this patient, deletion of the disease allele, CXCR4(R334X), as well as 163 other genes from one copy of chromosome 2 occurred in a he ...[more]