Chromothriptic cure of WHIM syndrome.

doi:10.1016/j.cell.2015.01.014

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Article

Chromothriptic cure of WHIM syndrome.

Cell - 12 Feb 2015

McDermott David H, Gao Ji-Liang, Liu Qian, Siwicki Marie, Martens Craig, Jacobs Paejonette, Velez Daniel, Yim Erin, Bryke Christine R, Hsu Nancy, Dai Zunyan, Marquesen Martha M, Stregevsky Elina, Kwatemaa Nana, Theobald Narda, Long Priel Debra A, Pittaluga Stefania, Raffeld Mark A, Calvo Katherine R, Maric Irina, Desmond Ronan, Holmes Kevin L, Kuhns Douglas B, Balabanian Karl, Bachelerie Françoise, Porcella Stephen F, Malech Harry L, Murphy Philip M

Abstract excerpt

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,...

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Identifiers

PMID: 25662009
DOI: 10.1016/j.cell.2015.01.014
PMCID: PMC4329071

Genes

CXCR4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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