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431.
Mycosis fungoides—a disease of antigen persistence 总被引:7,自引:0,他引:7
R. S.-H. TAN C. M. BUTTERWORTH † H. McLAUGHLIN ‡ SAMUEL MALKA† P. D. SAMMAN 《The British journal of dermatology》1974,91(6):607-616
The function of B- and T-lymphocytes in nineteen patients with classical Alibert's mycosis fungoides (MF) was studied. In general there was no evidence of immune depression, not even in those with the disease for many years. The distribution of B-cells in the peripheral blood was normal. No immunoglobulin- bearing lymphocytes were detected in freshly liberated cells from the skin lesions or on direct immunofluorescence microscopy of those lesions. Serum IgE levels were significantly elevated, even though only two of the patients were atopic. ‘Auto-antibodies’ were detected in thirteen patients. Two cases of malignant lymphoma and one of Sézary syndrome contrasted strikingly with the mycosis fungoides (MF) group. Our findings support the hypothesis that mycosis fungoides (MF) is a chronic granulomatous response to persistent unidentified antigen(s), upon which immune imbalance can develop resulting in ‘auto-immune’ phenomena and, in a few cases, the emergence of various lymphoreticular neoplasms. 相似文献
432.
White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene
ARTEMIS D GIKA ATA SIDDIQUI ANTHONY J HULSE SELVAKUMARI EDWARD PENNY FALLON MERIEL E MCENTAGART WAJANAT JAN DRAGANA JOSIFOVA TALLY LERMAN‐SAGIE JAMES DRUMMOND EDWARD THOMPSON SAMUEL REFETOFF CARSTEN G BÖNNEMANN HEINZ JUNGBLUTH 《Developmental medicine and child neurology》2010,52(5):475-482
Aim Mutations in the SLC16A2 gene have been implicated in Allan–Herndon–Dudley syndrome (AHDS), an X‐linked learning disability * syndrome associated with thyroid function test (TFT) abnormalities. Delayed myelination is a non‐specific finding in individuals with learning disability whose genetic basis is often uncertain. The aim of this study was to describe neuroimaging findings and neurological features in males with SLC16A2 gene mutations. Method We reviewed brain magnetic resonance imaging (MRI) findings and neurological features in a cohort of five males aged between 1 year 6 months and 6 years (median 4y) from four families harbouring SLC16A2 gene mutations. Results The participants presented aged between 4 and 9 months with initial hypotonia and subsequent spastic paraparesis with dystonic posturing and superimposed paroxysmal dyskinesias. Dystonic cerebral palsy was the most common initial clinical diagnosis, and AHDS was suspected only retrospectively, considering the characteristically abnormal thyroid function tests, with high serum tri‐iodothyronine (T3), as the most consistent finding. Brain MRI showed absent or markedly delayed myelination in all five participants, prompting the suspicion of Pelizaeus–Merzbacher disease in one patient. Interpretation Our findings indicate a consistent association between defective neuronal T3 uptake and delayed myelination. SLC16A2 involvement should be considered in males with learning disability, an associated motor or movement disorder, and evidence of delayed myelination on brain MRI. Although dysmorphic features suggestive of AHDS are not always present, T3 measurement is a reliable screening test. 相似文献