Cases reported "Agammaglobulinemia"

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1/48. Evolution of the Sabin strain of type 3 poliovirus in an immunodeficient patient during the entire 637-day period of virus excretion.

    A 20-year-old female hypogammaglobulinemic patient received monotypic Sabin 3 vaccine in 1962. The patient excreted type 3 poliovirus for a period of 637 days without developing any symptoms of poliomyelitis, after which excretion appeared to have ceased spontaneously. The evolution of Sabin 3 throughout the entire period of virus excretion was studied by characterization of seven sequential isolates from the patient. The isolates were analyzed in terms of their antigenic properties, virulence, sensitivity for growth at high temperatures, and differences in nucleotide sequence from the Sabin type 3 vaccine. The isolates followed a main lineage of evolution with a rate of nucleotide substitution that was very similar to that estimated for wild-type poliovirus during person-to-person transmission. There was a delay in the appearance of antigenic variants compared to sequential type 3 isolates from healthy vaccines, which could be one of the possible explanations for the long-term excretion of virus from the patient. The distribution of mutations in the isolates identified regions of the virus possibly involved in adaptation for growth in the human gut and virus persistence. None of the isolates showed a full reversion of the attenuated and temperature-sensitive phenotypes of Sabin 3. Information of this sort will help in the assessment of the risk of spread of virulent polioviruses from long-term excretors and in the design of therapies to stop long-term excretion. This will make an important contribution to the decision-making process on when to stop vaccination once wild poliovirus has been eradicated.
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2/48. Generalized warts and immune deficiency.

    A case of common variable hypogammaglobulinaemia with associated impairment of cell mediated immunity and severe wart virus infection is described. The defect of cell mediated immunity is thought to have predisposed this patient to the development of persistent wart infection which in turn grossly depressed the body's cellular immunity and thus allowed widespread dissemination of the warts. The rapid restoration of cell mediated immunity which followed the reduction in the antigenic load of wart virus by diathermy treatment was followed by the spontaneous regression of all the patient's warts. This unusual case may provide some insight into the complex relationship between wart virus infection and the immune system of the host.
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3/48. ad and ay subtypes of hepatitis B antigen in a case of hypogammaglobulinaemia.

    We describe the finding of d and y specificities of hepatitis B surface antigen (HBsAg) in a case of hypogammaglobulinaemia of the 'common variable' type treated with fresh frozen plasma infusions. absorption studies show that the two specificities are on separate particles, suggesting dual infection. It raises important questions regarding the relationship between HBsAg persistence and the immune status of the carrier.
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4/48. zinc therapy of depressed cellular immunity in acrodermatitis enteropathica. Its correction.

    A child with hypogammaglobulinemia and intractable diarrhea underwent parenteral alimentation for five months. A clinical syndrome of acrodermatitis enteropathica subsequently developed associated with a depression in thymus-dependent lymphocyte (T cell) numbers, abnormal T-cell mitogen-induced blast transformation, and anergy to skin test antigens. plasma zinc levels were found to be abnormally low. zinc therapy resulted in dramatic resolution of the clinical manifestations of acrodermatitis enteropathica. Cell-mediated immune function was also restored to normal, suggesting an important role for zinc and possibly other trace metals in cellular immune responses.
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5/48. A mutation in Bruton's tyrosine kinase as a cause of selective anti-polysaccharide antibody deficiency.

    Children and adults can have recurrent infection with invasive encapsulated bacterial pathogens such as streptococcus pneumoniae as a result of a selective inability to respond to polysaccharide antigens. We have identified a mutation in the gene encoding Bruton's tyrosine kinase in a male patient with selective anti-polysaccharide antibody deficiency.
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6/48. Extranodal cytotoxic T-cell lymphoma in a patient with X-linked agammaglobulinaemia.

    This report documents the occurrence of an extranodal cytotoxic peripheral T-cell lymphoma (PTCL) in a patient with X-linked agammaglobulinaemia (XLA). The diagnosis was based on the immunohistochemical detection of T-cell antigens and of the cytotoxic proteins TIA1 and Granzyme B in the tumour cells. This report provides further evidence that cytotoxic lymphomas are part of the differential diagnosis of neoplasia in patients with immunodeficiencies.
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7/48. Systemic lupus erythematosus complicated by cytomegalovirus-induced hemophagocytic syndrome and colitis.

    Here, we report a case of systemic lupus erythematosus (SLE) complicated by cytomegalovirus (CMV)-induced hemophagocytic syndrome (HPS) and colitis. A 44-year-old woman with SLE was treated with corticosteroid and cyclophosphamide for lupus nephritis. Although her lupus nephritis improved, fever, progressive pancytopenia and intestinal bleeding were observed. A bone marrow aspiration showed an increase in mature histiocytes with hemophagocytosis. In addition, a colonoscopy showed hemorrhagic colitis with ulcer and the biopsy specimen from the colon revealed typical CMV cells with CMV inclusions confirmed by immunohistochemistry. Furthermore, a large number of CMV antigen-positive leukocytes was detected, suggesting an active CMV infection. CMV infection is serious in compromised hosts. Therefore clinicians should be aware of the clinical settings in which this infection can arise and the target organs potentially affected in order to initiate the appropriate intervention.
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8/48. thymoma associated with pure red cell aplasia, immunoglobulin deficiency and an inhibitor of antigen-induced lymphocyte transformation.

    A case of thymoma associated with pure red cell aplasia and hypogammaglobulinaemia is described in which the anaemia was of abrupt onset, following removal of the tumour. Tests of immunological function showed abnormalities of both humoral and cellular immunity. The patient was found to have a serum inhibitor of antigen-induced lymphocyte transformation which disappeared after immunosuppressive therapy at the same time that erythroblasts reappeared in the marrow. It is suggested that the triad of thymoma, pure red cell aplasia and immunoglobulin deficiency are manifestations of 'pluripotent' stem cell failure; in this case the inhibitor of lymphocyte transformation may have been related to the factor which also inhibited red cell maturation.
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keywords = antigen
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9/48. carbamazepine-induced IgG1 and IgG2 deficiency associated with B cell maturation defect.

    This paper presents the first case of asymptomatic IgG1 and IgG2 deficiency induced by carbamazepine (CBZ). The patient has remained asymptomatic since CBZ was started because IgM reduced only transiently, IgA decreased but remained within the normal range, and the specific antibodies to organisms having capsular polysaccharide antigens were not defective in this case. Analysis of membrane surface immunoglobulin (sIg) on B lymphocytes indicated that the maturation of B cells was defective from sIgM cells to sIgG cells. There have been no previous reports of igg deficiency induced by CBZ due to this mechanism. immunoglobulins should be carefully examined in patients treated with CBZ, particularly after its initiation.
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10/48. Hepatitis B surface antigen variant with multiple mutations in the a determinant in an agammaglobulinemic patient.

    A patient with agammaglobulinemia developed acute hepatitis that progressed to chronic liver disease with high levels of hepatitis b virus (HBV) dna in the absence of detectable HBsAg. Sequencing of the a determinant region of HBsAg revealed multiple amino acid substitutions that, unusually, also included a substitution at position 122 that defines subtype specificity. All of these mutations had a profound effect on the antigenicity of this region, which led to the complete failure of variant detection by commercially available routine diagnostic assays or laboratory-based monoclonal antibody assays.
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