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dc.contributor.authorMiller, Danieleng
dc.contributor.authorHoffman, Emily L.eng
dc.contributor.authorEllingson, Derekeng
dc.contributor.corporatenameUniversity of Missouri--Columbia. School of Medicineeng
dc.contributor.meetingnameHealth Sciences Research Day (2010 : University of Missouri)eng
dc.date.issued2010-02eng
dc.description.abstractObjective: To report a case of trichorhinophalangeal syndrome coexistent with common variable immunodeficiency (CVID)-like phenotype with a polyclonal expansion of CD8 T-cells Case: A 34-year-old white woman with multiple congenital abnormalities, autoimmune endocrinopathies, and chronic neutropenia with splenomegaly presented with daily low-grade fever. Laboratory examination showed pancytopenia and persistent neutropenia now unresponsive to G-CSF. A bone marrow biopsy revealed 95% cellularity, myelofibrosis, increased histiocytes and eosinophils, and extensive lymphoid infiltration all interpreted to represent a T-cell proliferative diseasepossibly malignant or as secondary to either long-term G-CSF treatment or CVID. To better understand her problems, her full history was reviewed, the literature was searched, and a T-cell receptor gene rearrangement analysis was performed. Discussion: CVID is clinically diverse: several potential genetic and immunopathogenic mechanisms may account for these heterogeneous and poorly defined clinical phenotypes. Polyclonal expansion of large granular lymphocytes with neutropenia has been reported in a substantial proportion of CVID patients and is associated with elevated levels of soluble Fas ligand. Molecular genetic analysis of the marrow showed that the T cells were polyclonal, ruling out malignancy. Although this patient's congenital abnormalities are likely unrelated, we hypothesize at least some of her endocrinopathies and all of her hematologic abnormalities are a manifestation of immunodysregulation due to CVID. This stresses the need to more precisely define distinct clinical phenotypes and to develop guidelines for diagnosis and treatment of a very heterogeneous syndrome, CVID.eng
dc.format.extent1 pageeng
dc.identifier.urihttp://hdl.handle.net/10355/6190
dc.languageEnglisheng
dc.relation.ispartofcommunityUniversity of Missouri--Columbia. Health Sciences Research Dayeng
dc.rightsOpenAccess.eng
dc.rights.licenseThis work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 3.0 License.eng
dc.subjecttrichorhinophalangeal syndromeeng
dc.subjectcommon variable immunodeficiencyeng
dc.subject.FASTImmunodeficiencyeng
dc.subject.FASTBone marrow -- Diseaseseng
dc.titleBone marrow failure associated with CD8 T-cell expansion in a patient with trichorhinophalangeal syndrome and common variable immunodeficiency [abstract]eng
dc.typeAbstracteng


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