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Autoimmune lymphoproliferative syndrome (ALPS) is a primary immunodeficiency caused by impaired Fas/FasL-mediated apoptosis of lymphocytes and is characterized by chronic nonmalignant or benign lymphoproliferation, autoimmune manifestations and expansion of double negative (DN) T-cells (TCRαβ+CD4-CD8-). Most cases of ALPS are associated with germline (ALPS-FAS) or somatic (ALPS-sFAS) heterozygous...
Chromosomal abnormalities are detected in 40–60% of patients with de novo myelodysplastic syndromes (MDS). This study used the FISH technique in 773 patients with de novo MDS without evidence of monosomy 7 (−7) or 7q deletion (7q−) by conventional G-banding cytogenetics (CC) to analyze their prognostic impact by FISH alone. FISH detected −7/7q− in 5.2% of patients. Presence of −7/7q− was associated...
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