Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026986 (myelodysplastic syndrome)
 14,926 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This study was purposed to investigate the killer immunoglobulin-like receptor (KIR) genotype in patients with hematological malignancies. The sequence specific primer-polymerase chain reaction (PCR-SSP) technique was performed for the amplification of six inhibitory KIR genes (KIR2DL1-2DL4, 3DL1-3DL2) and six activating KIR genes (KIR2DS1-S5, 3DS1). The methods of KIR-SSP was used to determine the KIR genotypes of 54 leukemia patients, including 14 patients with acute myeloid leukemia (AML), 16 with acute lymphoblastic leukemia (ALL), 20 with chronic myeloid leukemia (CML), 3 with myelodysplastic syndrome (MDS) and 1 with acute myeloid-lymphoblast leukemia (AMLL). 54 patients were classified as high risk group (n = 27) and standard risk group (n = 27). The expression of KIR in NK cells and T cells was detected by flow cytometry. The frequencies of activating KIR genes in standard risk group were higher than those in high risk group, especially 2DS1 (p = 0.014), or 2DS2 (p = 0.046), or 3DS1 (p = 0.027). However, the frequencies of inhibitory KIR genes in standard risk group were similar to those in high risk group (p > 0.05). The frequencies of activating KIR genes were also higher in standard risk patients with acute AML, as compared with those in high risk patients with acute AML, particularly 2DS1 (66.7% vs 29.4%, p = 0.022), 2DS2 (57.6% vs 17.6%, p = 0.013), and 2DS3 (33.3% vs 5.9%, p = 0.039). The percentages of patients in high-risk group who expressed more than two kinds of activating KIRs were lower that those in standard-risk group (p = 0.035). There was no difference in the expressions of CD158a, CD158b, and CD158e on NK cells and T cells between high-risk group and standard-risk group (p > 0.05). In conclusions, different expressions of activating KIR genes were found in patients between high-risk group and standard-risk group.
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PMID:[Differential expression levels of killer immunoglobin-like receptor genotype in patients with hematological malignancies between high-risk and standard-risk groups]. 1871 52

Natural killer cells (NK) are pivotal cells of innate immunity. They are potent antileukemic cytotoxic effectors. A defect in their cytotoxicity has been described in some hematopoietic malignancies such as acute myeloid leukemia, multiple myeloma and myelodysplastic syndromes. This defect is at least partially linked to a decreased or absent expression of some activating NK cells molecules, more particularly the so-called natural cytotoxicity receptors. In the present study, we more particularly focused our attention on NK cells of polycythemia vera, a myeloproliferative disease characterized by the presence of mutated JAK2 tyrosine kinase. The polymerase chain reaction analysis of NK cells from patients showed that they expressed the mutated form of JAK2. In polycythemia vera the proportion of NK was increased compared to healthy donors. The proliferative and cytotoxic abilities of NK cells from patients were similar to healthy donors. Expression of activating or inhibitory receptors was comparable in patients and donors, with nonetheless an imbalance for the inhibitory form of the CD158a,h couple of receptors in patients. Finally, the transcriptomic profile analysis clearly identified a discriminant signature between NK cells from patients and donors that could putatively be the consequence of abnormal continuous activation of mutated JAK2.
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PMID:Natural killer cells in patients with polycythemia vera. 2640 10