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1.
Cell ; 160(4): 686-699, 2015 Feb 12.
Artículo en Inglés | MEDLINE | ID: mdl-25662009

RESUMEN

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 hematopoietic stem cell (HSC) that repopulated the myeloid but not the lymphoid lineage. In competitive mouse bone marrow (BM) transplantation experiments, Cxcr4 haploinsufficiency was sufficient to confer a strong long-term engraftment advantage of donor BM over BM from either wild-type or WHIM syndrome model mice, suggesting a potential mechanism for the patient's cure. Our findings suggest that partial inactivation of CXCR4 may have general utility as a strategy to promote HSC engraftment in transplantation.


Asunto(s)
Inestabilidad Cromosómica , Síndromes de Inmunodeficiencia/genética , Verrugas/genética , Animales , Cromosomas Humanos , Modelos Animales de Enfermedad , Haploinsuficiencia , Células Madre Hematopoyéticas/metabolismo , Humanos , Linfocitos/metabolismo , Masculino , Ratones , Persona de Mediana Edad , Mosaicismo , Mutación , Células Mieloides/metabolismo , Enfermedades de Inmunodeficiencia Primaria , Receptores CXCR4/genética , Remisión Espontánea
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