1/168. Selective antipolysaccharide antibody deficiency associated with peripheral blood CD5 B-cell predominance.BACKGROUND: Primary humoral deficiencies vary from complete absence of B cells and/or serum immunoglobulin to lacunar deficits involving specific antibody responses to polysaccharides. OBJECTIVES: We compared the B-cell CD5 expression in patients with selective antipolysaccharide antibody deficiencies (SPADs), common variable immunodeficiency (CVID), and IgG subclass deficiency and in normal control subjects. methods: Five patient populations were evaluated: (1) patients with severe SPAD (no protective serologic postvaccine response to any of 12 polysaccharide antigens tested); (2) patients with intermediate SPAD (diminished response to polysaccharide antigens and adequate response to 1 to 3 of 12 serotypes tested); (3) patients with IgG subclass deficiency; (4) patients with CVID; and (5) age-matched control subjects. Blood was collected from all patients and evaluated by using flow cytometry. Results were compared by using the Student t test. RESULTS: patients with severe SPAD deficiencies had a marked predominance of CD5 B cells in the peripheral blood (93% to 97% of total B cells, n = 2). The intermediate SPAD group had a mean CD5 B-cell percentage that was significantly higher than that of the age-matched control group (87. 4%, n = 7, vs 52.5%, n = 20; P =.007). patients with CVID and IgG subclass deficiency had mean CD5 B-cell percentages that were similar to those of the age-matched control subjects. CONCLUSIONS: Our studies demonstrate that patients with SPAD had a markedly increased percentage of CD5 B cells in the peripheral blood as compared with age-matched control subjects and patients with other humoral deficiencies. This observation suggests that an association may be present between CD5 B-cell predominance and SPAD.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
2/168. Further characterization of memory T cells existing in a case of CD8 deficiency.CD8 deficiency is a rare primary immunodeficiency caused by a defect of ZAP-70, which plays a pivotal role in T cell activation. We previously reported the existence of memory phenotype-CD4 T cells in a case of CD8 deficiency, which demonstrates that activation signals through ZAP-70 are not essential to the phenotypic conversion of T cells from "naive" to "memory." In this study, we further characterized CD45RO T cells in a CD8 deficient patient. We showed that the patient's CD45RO T cell population had a wide variety of T cell receptor Vbeta-chain gene usage, and contained few clonally expanded T cells, while many clonally expanded T cells were present in the memory T cell population of age-matched healthy children. These results suggest that various kinds of antigens were involved in the differentiation of the patient's T cells, and that the differentiation into memory T cells was not accompanied by profound T cell proliferation. Moreover, our findings confirmed that the patient's CD45RO CD4 T cells had acquired effector-cytokine producing ability, indicating that there exists an alternative activation pathway which is independent of ZAP-70 for the acquisition of effector-cytokine producing ability.- - - - - - - - - - ranking = 0.5keywords = antigen (Clic here for more details about this article) |
3/168. Accelerated phase in partial albinism with immunodeficiency (Griscelli syndrome): genetics and stem cell transplantation in a 2-month-old girl.A 2-month-old girl presented with fever, hepatosplenomegaly, pancytopenia, hypertriglyceridaemia and silvery-greyish hair, suggesting the diagnosis of Griscelli syndrome (partial albinism with immunodeficiency). This diagnosis was confirmed by the characteristic agglomeration of melanin in the hair shaft and accumulation of melanosomes in melanocytes of the skin. The patient was homozygous for polymorphic markers around the myosin-Va gene on chromosome 15q21, which co-localize to the Griscelli disease locus. Natural-killer cells were in the lower range. The stimulation of lymphocytes with antigen and mitogen was normal. The patient's accelerated phase, characterized by haemophagocytosis was treated with prednisolone, rabbit anti-thymocyte globulins, and intrathecal methotrexate. Remission was maintained with cyclosporin A until HLA-compatible peripheral blood stem cell transplantation from her mother. CONCLUSION: The silvery-greyish hair associated with fever, pancytopenia and hypertriglyceridaemia is the clue to early diagnosis of Griscelli syndrome and important to prevent death before stem cell transplantation.- - - - - - - - - - ranking = 0.5keywords = antigen (Clic here for more details about this article) |
4/168. Strong alpha beta and gamma delta TCR response in a patient with disseminated mycobacterium avium infection and lack of NK cells and monocytopenia.infection with atypical mycobacteria occurs mainly in patients with a compromised cellular immune system, in particular in those with a defective T cell or monocyte function. Here we analyzed the specific immune response of an adolescent hiv-negative patient with disseminated mycobacterium avium infection and fatal varizella zoster virus infection. The patient presented with dysplastic hematopoesis of all cell lineage's and a bicytopenia of erythrocytes and leukocytes, but a hematological malignancy could not be found. We found a peripheral lymphopenia and monocytopenia, as well as a lack of NK-cells and B-cells. lymphocytes consisted of 95% T cells, which contained up to 40% of TCR gammadelta CD4-CD8-T-cells (mainly TCR gamma9delta2), few monocytes and B-cells. Approximately 50% of CD3 T-cells showed a CD57 NK-like phenotype. Functional analysis of PBMC revealed a good antigen-specific T cell function if antigen-presenting cells were supplemented from a HLA-matched donor. Moreover, a strong M. avium specific cytotoxicity mediated by TCR alphabeta T-cells could be found in vitro and even ex vivo. In contrast, NK-killing was absent. No evidence for a defect in IL-12 or IFN-gamma production and signaling were found. The data indicate that a strong alphabeta and gammadelta T cell immunity tries to compensate for a deficient monocyte and NK cell function in this patient.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
5/168. Heterogeneity of lymphocyte subpopulations in severe combined immunodeficiency. Evidence against a stem cell defect.Surface markers typical of T and B lymphocytes were present on varying proportions of peripheral blood lymphocytes from three infants with severe combined immunodeficiency disease. Despite this, functions mediated by T and B cells were either absent or very minimal in all three, including cell-mediated responses in vivo; the in vitro proliferative response to mitogens, allogeneic cells, or antigens; effector cell function in lymphocyte-antibody lymphocytolytic interaction assays; and in vitro synthesis of IgG, IgA, and IgM. In contrast, mononuclear cells from one of the infants were tested and found capable of lysing both human and chicken antibody-coated erythrocyte targets normally. Co-cultivation experiments with unrelated normal control lymphocytes failed to demonstrate suppressor cell activity for immunoglobulin synthesis in these infants. Augmentations of immunoglobulin production from 310 to 560% over that expected on the basis of individual culture data were noted in co-cultures of one of the infants' cells with two different unrelated normal control cells. These findings suggest that that infant may have had a T helper cell defect or that his T cells were unable to produce soluble factors necessary for B cell differentiation. The finding of cells with differentiation markers characteristic of T and B lymphocytes in each of these patients, though in variable quantities, is further evidence for heterogeneity among patients with the clinical syndrome of severe combined immunodeficiency and argues against the concept that their immunodeficiency was due to a stem cell defect.- - - - - - - - - - ranking = 0.5keywords = antigen (Clic here for more details about this article) |
6/168. A paraprotein in severe combined immunodefeciency disease detected by immunoelectrophoretic analysis of plasma.A qualitative study was made of the plasma immunoglobulins of a child with severe combined immunodeficiency. By immunoelectrophoresis an immunoglobulin with an abnormal electrophoretic mobility was detected. This protein possessed mu heavy chain determinants, gave no detectable reaction with antisera specific for light chains, was of a relatively small molecular size, and was probably not composed of subunits held together by easily reduced disulfide bonds. The light chains that were present in this patient's plasma had a homogeneous electrophoretic mobility. The patient's plasma also contained at least two other immunoglobulins whose antigenic identity could not be established. One of these was abnormal in its electrophoretic mobility. The presence of the abnormal protein with mu determinants in the plasma of the second unrelated child with a similar disease suggests that the detection of this protein may have implications for the diagnosis or classification of immunodeficiency diseases.- - - - - - - - - - ranking = 0.5keywords = antigen (Clic here for more details about this article) |
7/168. Selective T-cell deficiency in Turner's syndrome.The case of a 29-year-old Caucasian woman with 45 X0 karyotype, known as Turner's syndrome, and a recently diagnosed selective T-cell deficiency is reported. The main clinical features of the patient were recurrent sinopulmonary infections and a negative skin test with seven common recall antigens. Laboratory findings included lymphocytopenia, highly elevated CD45RA/CD45R0 ratio, as well as reduced expression of the co-stimulatory molecules CD154, CD86, CD80 and CD28 on CD4 cells in combination with disturbed lymphocyte transformation in vitro. Markedly decreased levels of interleukin (IL)-2R, both on lymphocyte surface as well as the soluble analog, suggest a new form of x-linked immunodeficiency associated with Turner's syndrome.- - - - - - - - - - ranking = 0.5keywords = antigen (Clic here for more details about this article) |
8/168. Treatment of EBV driven lymphoproliferation with erythrophagocytosis: 12 year follow up.This is a report of a case of Epstein-Barr virus (EBV) associated haemophagocytic syndrome in a 17 year old woman with antibody deficiency. For two years before this presentation, serology showed abnormally high titres to EBV early antigen, suggestive of persistent infection with EBV. She became acutely unwell with clinical features consistent with virus associated haemophagocytic syndrome (VAHS). histology showed lymphoproliferation with erythrophagocytosis and evidence of EBV encoded RNAs in liver, spleen, and lymph node. VAHS is often fatal, particularly when it occurs in patients with underlying immunodeficiencies. In this case, treatment with intravenous immunoglobulin, aciclovir, and alpha interferon was followed by a dramatic recovery. Twelve years later the patient remains relatively well on regular intravenous immunoglobulin.- - - - - - - - - - ranking = 0.5keywords = antigen (Clic here for more details about this article) |
9/168. Residual expression of functional MHC class II molecules in twin brothers with MHC class II deficiency is cell type specific.We examined major histocompatibility complex (MHC) class II expression in B cells, peripheral blood monocytes, activated T cells, epidermal langerhans cells, monocyte-derived dendritic cells, dermal microvascular endothelial cells (DMEC) and fibroblasts of twin brothers with MHC class II deficiency. Although residual human leucocyte antigen (HLA)-DR expression was found on a subpopulation of epidermal langerhans cells and a subset of peripheral blood monocyte-derived dendritic cells, the patients' B cells, monocytes and activated T cells were HLA-DR negative. After treatment with interferon-gamma (IFN-gamma), the patients' DMEC expressed HLA-DR but not -DP and -DQ at the protein and mRNA level, whereas IFN-gamma failed to induce HLA-DR expression on dermal fibroblasts. The patients' monocyte-derived dendritic cells were capable of processing and presenting tetanus toxoid to autologous T cells, and patient-derived DMEC induced the proliferation of allogeneic CD4( ) T cells in an MHC class II-restricted fashion, indicating that the observed residual MHC class II surface expression was functional. The findings reported show that the defect encountered in these patients is not necessarily expressed to the same extent in different cell lineages, which is relevant for the understanding of the patients' phenotype and also illustrates that only small amounts of MHC class II are needed to mount a functional cellular immune response in vivo.- - - - - - - - - - ranking = 0.5keywords = antigen (Clic here for more details about this article) |
10/168. autopsy case of the cerebellar form of progressive multifocal leukoencephalopathy without immunodeficiency.A case of the cerebellar form of progressive multifocal leukoencephalopathy (PML) without remarkable immune depression or immune deficiency is reported here. The patient was a 74-year-old-woman who had complications of chronic renal failure and renal anemia for several years. Seven months before her death she had symptoms of general fatigue, gait disturbance and articulation disorder. During her hospitalization period her neurological disorder gradually progressed irreversibly with failure of consciousness and she died of respiratory failure. She did not have remarkable clinical signs of immunodeficiency nor did she receive immunosuppressive therapy. Clinically she had not been diagnosed with PML. At the post-mortem examination different degrees of demyelination were observed in the brain white matter: diffuse and severe in the cerebellum, moderate and coalescent in the brainstem, and light and patchy in the cerebrum. jc virus antigen-positive cells were frequently observed in the demyelinated lesions in the cerebrum and sometimes observed in the brainstem, but were rarely found in the cerebellum. These findings suggest that PML lesions may be present with different degrees of demyelination that are inversely correlated with the number of jc virus-infected cells. This fact should be considered when evaluating the brain biopsies of PML patients.- - - - - - - - - - ranking = 0.5keywords = antigen (Clic here for more details about this article) |
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