1/12. A spontaneous novel XK gene mutation in a patient with McLeod syndrome.A 29-year-old man with a history of elevated creatine kinase and necrotizing myopathy was reviewed. Prominent red cell acanthocytosis in association with reduced Kell antigen expression was present, findings consistent with the McLeod syndrome. Investigation of the patient's XK gene revealed a novel TGG- to-TAG transition at position 1023 in exon 3. This point mutation creates an in-frame stop codon (W314X), and predicts a truncated XK protein of 313 amino acids, compared with 444 amino acids in the normal XK protein. The mutation was not identified in the patient's mother or sister indicating that this mutation was spontaneous.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
2/12. Microbiological, immunological and genetic factors in family members with periodontitis as a manifestation of systemic disease, associated with hematological disorders.The microflora, immunological profiles of host defence functions, and human leukocyte antigen (HLA) findings are reported for a mother, son and daughter who were diagnosed as having 'periodontitis as a manifestation of systemic diseases, associated with hematological disorders'. Examinations were made of the bacterial flora from the periodontal pocket, neutrophil chemotaxis, neutrophil phagocytosis, and the genotypes (DQB1) and serotypes (DR locus) of HLA class II antigens. Phenotypic analyses of the peripheral lymphocytes were also conducted. The subgingival microflora from the mother was dominated by Gram-negative rods, especially porphyromonas endodontalis, prevotella intermedia/prevotella nigrescens and fusobacterium nucleatum. Subgingival microflora samples from the son and daughter were dominated by gram-positive cocci and gram-positive rods. Through the use of polymerase chain reaction, campylobacter rectus and capnocytophaga gingivalis were detected in all subjects, whereas porphyromonas gingivalis, P. intermedia, and treponema denticola were not detected in any subjects. All three subjects showed a remarkable level of depressed neutrophil chemotaxis to N-formyl-methionyl-leucyl-phenylalanine, although their phagocyte function levels were normal, in comparison to healthy control subjects. Each subject had the same genotype, HLA-DQB1*0601, while the mother had HLA-DR2 and HLA-DR8, and the son and daughter had HLA-DR2 only. In summary, the members of this family showed a similar predisposition to periodontitis with regard to certain host defence functions. It is suggested that the depressed neutrophil chemotaxis that was identified here could be a significant risk factor for periodontitis in this family.- - - - - - - - - - ranking = 2keywords = antigen (Clic here for more details about this article) |
3/12. McLeod syndrome resulting from a novel XK mutation.McLeod syndrome (MLS) is a rare X-linked disorder characterized by haemopoietic abnormalities and late-onset neurological and muscular defects. The McLeod blood group phenotype is typically associated with erythrocyte acanthocytosis, absence of the Kx antigen and reduced expression of Kell system antigens. MLS is caused by hemizygosity for mutations in the XK gene. We describe a patient with MLS who first showed symptoms in 1989 (aged 51 years). As the disease progressed, the patient developed a slight dementia, aggressive behaviour and choreatic movements. A cardiomyopathy was also diagnosed. An electroneuromyography showed neuropathic and myopathic changes. liver enzymes were elevated and a blood smear showed acanthocytes. MLS was confirmed by serological analysis of the Kell antigens. Analysis of red blood cells by flow cytometry revealed the patient and his grandson to have reduced Kell antigen expression. The patient's daughters had two populations of red cells, consistent with them being heterozygous for an XK0 allele. The molecular basis of MLS in this family is a novel mutation consisting of a 7453-bp deletion that includes exon 2 of the XK gene. This confirms that the patient's 7-year-old grandson, who is currently asymptomatic, also has the XK0 allele and is therefore likely to develop MLS.- - - - - - - - - - ranking = 4keywords = antigen (Clic here for more details about this article) |
4/12. helicobacter pylori as cause of gastrointestinal disease in children with hemato-oncologic diseases.After documentation of a case of life threatening helicobacter pylori (H. pylori) gastric ulcer in an adolescent girl on treatment for acute lymphoblastic leukaemia, we started to systematically look for gastro-intestinal symptoms due to H. pylori infection in our cancer patients at G. Gaslini Children's Hospital. During a period of 46 months, we observed 13 further cases of severe dyspepsia syndrome or gastro intestinal bleeding associated with presence of H. pylori faecal antigen. All patients recovered with appropriate therapy. H. pylori may represent a cause of severe gastrointestinal complications in children with cancer or following bone marrow transplant.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
5/12. Activation of hepatitis b virus infection by chemotherapy containing glucocorticoid in hepatitis b virus carriers with hematologic malignancies.Among 262 inpatients with hematologic diseases who were referred for chemotherapy or immunosuppressive therapy between January, 1985, and December, 1989, nine (3.4%) patients, including two with Hodgkin's disease (HD), three with acute myeloblastic leukemia, one with chronic myelogenous leukemia, two with multiple myeloma and one with aplastic anemia, were found to be hepatitis b virus (HBV) carriers before their chemotherapy began. All six HBV carriers who received chemotherapy containing glucocorticoid showed mild-to-moderate elevations in serum transaminase levels after the chemotherapy. Five showed a rise in titer of the hepatitis B surface antigen, HBsAg. In contrast, three HBV carriers not receiving glucocorticoid showed no change in serum transaminase after chemotherapy. One HBV carrier with HD suffered from severe icteric hepatitis after the withdrawal of multiagent chemotherapy containing glucocorticoid. The HBV-dna polymerase rose markedly and was accompanied by a marked rise in titer of HBsAg. The results warn us to keep in mind the possibility of glucocorticoid inducing an activation of HBV infection, which may result in severe hepatitis in some HBV carriers. Although further investigation is required, it is recommended that HBsAg-positive patients with hematologic malignancies should, if possible, be treated without glucocorticoid.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
6/12. Successful HLA nonidentical bone marrow transplantation in three patients with the leukocyte adhesion deficiency.Three consecutive patients with the severe phenotype of leukocyte adhesion deficiency characterized by a defective expression of LFA-1, Mac-1 (CR3), and p150.95 on leukocytes have received HLA partially incompatible bone marrow transplantation (BMT). The degree of HLA incompatibility between related donors and recipients was 2 hla antigens in one and one full haplotype in the two others. Graft-v-host disease (GVHD) prophylaxis consisted in T-cell depletion of the bone marrow inoculum and a 60-day course of cyclosporin A. A first attempt led to autologous recovery in one patient. The second transplant in this patient and the first transplant in the two others led to stable partial engraftment of lymphocytes and phagocytic cells, as shown by expression of adhesion molecules (LFA-1, Mac-1) on leukocytes and by HLA typing and restriction fragment-length polymorphism studies using minisatellite probes. Although the level of mixed chimerism was lower in one patient (7% to 30% donor cells) and greater than 50% in the two others, recovery of lymphocyte and phagocytic cell functions was sufficient enough to allow the patient to lead a normal life, infection free in the three cases. These patients, now 57, 32, and 19 months post-transplant, are in good condition without any therapy. These results lead us to propose that the LFA-1 molecule plays a role in HLA-incompatible graft rejection, probably by mediating adhesion of cytotoxic T and non-T lymphocytes to their targets.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
7/12. Simultaneous expression of lymphoid and myeloid phenotypes in acute leukemia arising from myelodysplastic syndrome.A 57-year-old female developed myelodysplastic syndrome (MDS) that terminated as a biphenotypic leukemia after exposure to chemoradiotherapy. Double staining of blast cells, using monoclonal antibodies specific for myeloid and lymphoid lineage, demonstrated that one-third of the leukemic cells simultaneously expressed the E rosette-associated antigen (OKT11) and myeloid-associated antigen (MY7). This finding suggests the possibility that some cases of MDS are clonal disorders that arise in a pluripotent stem cell that can also differentiate to T cell lineage.- - - - - - - - - - ranking = 2keywords = antigen (Clic here for more details about this article) |
8/12. Cytopathology of extramedullary hemopoiesis in effusions and peritoneal washings: a report of three cases with immunohistochemical study.The clinical, cytopathologic, and immunohistochemical features of three cases of extramedullary hemopoiesis are presented. Differentiation of megakaryocytes from malignant cells can be difficult in cytologic material; we believe familiarity with cytologic features of megakaryocytes, along with factor viii-related antigen immunoreactivity, is helpful in providing an accurate diagnosis.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
9/12. Six cases of seroconversion of human immunodeficient virus (hiv) antibody post-transfusion in hiv seronegative bloods.Seroconversion of human immunodeficient virus (hiv)-antibody post blood transfusion has been reported (Jett et al, 1983; Cumming et al, 1989). We report here, six hematologic patients who became hiv-antibody positive after receiving hiv seronegative blood and blood components during their illness. There were three cases of acute non-lymphocytic leukemia, one thalassemia, one dyshemopoiesis and one hemophilia a. Thus, the risk of acquiring hiv infection from transfusion remains, despite the routine serological screening of donated blood by hiv ELISA tests. So the laboratory screening of blood should be improved by using more sensitive and specific antibody kits, including the use of hiv antigen testing, which have been reported to be useful in the diagnosis of patients with the early hiv infection.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
10/12. fever, lymphadenopathy, eosinophilia, lymphocytosis, hepatitis, and dermatitis: a severe adverse reaction to minocycline.A 17-year-old female patient who had been taking oral minocycline (50 mg twice daily) for 3 weeks for acne developed an eruption that progressed to an exfoliative dermatitis. This illness was also characterized by fever, lymphadenopathy, pharyngitis, a leukemoid reaction, lymphocytosis, eosinophilia, hepatitis, and noncardiogenic pulmonary edema. Dramatic improvement followed institution of corticosteroid therapy. Studies for infectious and collagen vascular diseases were negative. This severe illness was likely caused by minocycline, and we speculate that minocycline may have acted as a superantigen, causing lymphocyte over-activation and massive cytokine release.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
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