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Plerixafor for the Treatment of WHIM Syndrome

2019Journal article Open access
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dc.contributor.authorMcDermott, DH
dc.contributor.authorPastrana, DV
dc.contributor.authorCalvo, KR
dc.contributor.authorPittaluga, S
dc.contributor.authorVelez, D
dc.contributor.authorCho, E
dc.contributor.authorLiu, Q
dc.contributor.authorTrout, HH
dc.contributor.authorFarela Neves, J
dc.contributor.authorGardner, PJ
dc.contributor.authorBianchi, DA
dc.contributor.authorBlair, EA
dc.contributor.authorLandon, EM
dc.contributor.authorSilva, SL
dc.contributor.authorBuck, CB
dc.contributor.authorMurphy, PM
dc.date.accessioned2023-11-03T11:33:48Z
dc.date.available2023-11-03T11:33:48Z
dc.date.issued2019
dc.description.abstractWHIM syndrome (warts, hypogammaglobulinemia, infections, and myelokathexis), a primary immunodeficiency disorder involving panleukopenia, is caused by autosomal dominant gain-of-function mutations in CXC chemokine receptor 4 (CXCR4). Myelokathexis is neutropenia caused by neutrophil retention in bone marrow. Patients with WHIM syndrome are often treated with granulocyte colony-stimulating factor (G-CSF), which can increase neutrophil counts but does not affect cytopenias other than neutropenia. In this investigator-initiated, open-label study, three severely affected patients with WHIM syndrome who could not receive G-CSF were treated with low-dose plerixafor, a CXCR4 antagonist, for 19 to 52 months. Myelofibrosis, panleukopenia, anemia, and thrombocytopenia were ameliorated, the wart burden and frequency of infection declined, human papillomavirus-associated oropharyngeal squamous-cell carcinoma stabilized, and quality of life improved markedly. Adverse events were mainly infections attributable to the underlying immunodeficiency. One patient died from complications of elective reconstructive surgery. (Funded by the National Institutes of Health.).pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationN Engl J Med . 2019 Jan 10;380(2):163-170pt_PT
dc.identifier.doi10.1056/NEJMoa1808575pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.17/4730
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherNEJM Grouppt_PT
dc.subjectBenzylaminespt_PT
dc.subjectBone Marrow / pathology*pt_PT
dc.subjectBone Marrow Examinationpt_PT
dc.subjectCyclamspt_PT
dc.subjectFatal Outcomept_PT
dc.subjectHeterocyclic Compounds / therapeutic use*pt_PT
dc.subjectImmunologic Deficiency Syndromes / drug therapy*pt_PT
dc.subjectImmunologic Deficiency Syndromes / pathologypt_PT
dc.subjectMiddle Agedpt_PT
dc.subjectNeoplasms, Squamous Cell / drug therapypt_PT
dc.subjectNeoplasms, Squamous Cell / geneticspt_PT
dc.subjectPhenotypept_PT
dc.subjectPrimary Immunodeficiency Diseasespt_PT
dc.subjectPrimary Myelofibrosis / drug therapypt_PT
dc.subjectPrimary Myelofibrosis / pathologypt_PT
dc.subjectReceptors, CXCR4 / antagonists & inhibitors*pt_PT
dc.subjectReceptors, CXCR4 / geneticspt_PT
dc.subjectWarts / drug therapy*pt_PT
dc.subjectWarts / pathologypt_PT
dc.subjectHDE INF PEDpt_PT
dc.titlePlerixafor for the Treatment of WHIM Syndromept_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage170pt_PT
oaire.citation.issue2pt_PT
oaire.citation.startPage163pt_PT
oaire.citation.titleNew England Journal of Medicinept_PT
oaire.citation.volume380pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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