CD20 positive T cell lymphoma is a rare condition that is associated with the coexpressions of CD20 and T cell markers, such as, CD3, CD5, or UCHL-1. Positivity for CD20 in this tumor represents an aberrant immunophenotype, but the presence of monoclonal T cell receptor (TCR) gene rearrangements and negativity for immunoglobulin heavy chain gene rearrangement indicate that this tumor is a T cell lymphoma. The majority of cases of CD20 positive T cell lymphoma have been reported as immature peripheral T cell lymphoma not otherwise specified. However, we believe that this disease is likely to be re-listed as a new disease entity after its pathogenesis has been elucidated and more cases have been evaluated. Here, we present a case of peripheral T cell lymphoma coexpressing CD20 and T cell markers with a demonstrable TCR gene rearrangement, in a patient who had been misdiagnosed as having B cell type lymphoma 4 years previously. We hypothesize that in this case initially circulating normal CD20+ T cell subsets underwent neoplastic transformation and CD20 positive T cell lymphoma subsequently developed in the lymph node, and then recurred in the skin due to systemic disease or metastasized from the nodal disease.
Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the α-galactosidase A (GLA) gene, which leads to a GLA deficiency and to the intracellular deposition of globotriaosylceramide (Gb3) within vascular endothelium and other tissues. It manifests as progressive multiple organ dysfunctions caused by the deposition of Gb3. On the other hand, congenital agammaglobulinemia is usually caused by mutations in Bruton's tyrosine kinase (Btk) gene with X-linked dominence, suppresses B cell maturation, and causes recurrent pyogenic infections. In former reports, the distance between the loci in the Xq22 region of the human X chromosome was found to be about 69 kilobases. A 23-yr-old man diagnosed with congenital agammaglobulinemia at age 5, showed typical clinical and laboratory and histopathological findings of Fabry's disease. The genetic basis of this combination of the two syndromes was studied in this patient. Here, we report a case of Fabry's disease with congenital agammaglobulinemia.
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