1/14. Specimen fine-needle aspiration cytology of littoral cell angioma with histologic and immunohistochemical confirmation.We performed a specimen fine-needle aspiration biopsy (FNAB) of a littoral cell angioma (LCA) from a 33-yr-old male who underwent elective splenectomy due to thrombocytopenia secondary to Wiscott-Aldrich syndrome. Gross examination revealed a 420-g, diffusely enlarged spleen which contained two moderately well-circumscribed, soft brown lesions measuring 0.3 and 1.0 cm, respectively. Benchtop aspiration of the lesions following splenectomy yielded a cellular sample composed predominantly of dispersed single cells, which ranged from columnar to spindle to circariform in shape. Nuclei were round to oval with even chromatin, and many contained single longitudinal grooves. A majority of the cells contained abundant, granular hemosiderin pigment, a key cytologic feature. Immunohistochemical staining revealed reactivity for antibodies to CD68 and factor viii-related antigen with no reactivity for S-100 protein and CD8. Littoral cell angioma must be differentiated from splenic hamartoma, hemangioma, angiosarcoma, littoral cell angiosarcoma, and epithelioid and spindle cell hemangioendothelioma. A combination of cytologic features and immunohistochemical results should enable an accurate diagnosis.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
2/14. Pneumatosis intestinalis in an infant undergoing bone marrow transplantation for wiskott-aldrich syndrome.A 7-month-old patient with wiskott-aldrich syndrome (WAS) developed pneumatosis intestinalis (PI) in the immediate post-transplant period after receiving paternal human leucocyte antigen (HLA) phenotypically matched bone marrow (BM). PI has been described in patients with congenital or acquired immunodeficiency states and after bone marrow transplantation (BMT). To our knowledge, the condition has not been described in WAS. The underlying bowel mucosa damage as a result of the history of massive rectal bleeding, the effects of the conditioning regimen, immunosuppression, neutropenia, and infection, may all have contributed to the development of PI. Although the condition resolved by conservative management alone, the patient developed klebsiella pneumonia sepsis, interstitial pneumonitis, failed to engraft, and died on day 66 following a second infusion of stem cells mobilized from his father's peripheral blood.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
3/14. bone marrow transplantation in a child with wiskott-aldrich syndrome latently infected with acyclovir-resistant (ACV(r)) herpes simplex virus type 1: emergence of foscarnet-resistant virus originating from the ACV(r) virus.A human leukocyte antigen (HLA)-matched unrelated bone marrow transplantation (BMT) was performed in a 13-year-old patient with the congenital immunodeficiency syndrome, wiskott-aldrich syndrome. The patient had a history of acyclovir (ACV)-resistant (ACV(r)) herpes simplex virus type 1 (HSV-1) infections prior to BMT. After BMT, the skin lesions caused by HSV-1 relapsed on the face and genito-anal areas. ganciclovir (GCV) therapy was initiated, but the mucocutaneous lesions worsened. An HSV-1 isolate recovered from the lesions during this episode was resistant to both ACV and GCV. The ACV(r) isolate was confirmed to have the same mutation in the viral thymidine kinase (TK) gene as that of the previously isolated ACV(r) isolates from the patient. After treatment switch to foscarnet (PFA), there was a satisfactory remission but not a complete recovery. Although the mucocutaneous lesions improved, a PFA-resistant (PFA(r)) HSV-1 was isolated 1 month after the start of PFA therapy. The PFA(r) HSV-1 isolate coded for the same mutation in the viral TK gene as the ACV(r) HSV-1 isolates. Furthermore, the PFA(r) isolate also expressed a mutated viral dna polymerase (dna pol) with an amino acid (Gly) substitution for Val at position 715. This is the first report on the clinical course of a BMT-associated ACV(r) HSV-1 infection that subsequently developed resistance to foscarnet as well.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
4/14. CD43 is expressed normally on Wiskott-Aldrich-derived lymphocytes.The wiskott-aldrich syndrome (WAS) is an X-linked disease characterized by eczema, thrombocytopenia, and profound immunodeficiency in affected males. While the etiology of the syndrome is currently unknown, abnormalities of CD43 have been described as a biochemical marker of the disease. Several investigators have demonstrated alterations in the expression of the CD43 surface antigen on WAS hematopoietic cells, noting either absence, decreased levels or changes in the characteristic molecular weight of the protein on the lymphocytes of affected patients. Biochemical studies have further indicated that glycosylating activity of specific enzymes which may post-translationally modify CD43 is altered in both T cells and Epstein-Barr-virus (EBV)-transformed B cells in WAS patients when compared to unaffected controls. Here we present data on cells derived from two males with a clinical diagnosis of WAS. Analysis of genomic dna from the mothers of each of these patients (obligate carriers) showed a nonrandom X-chromosome inactivation pattern of nucleated blood cells, confirming the diagnosis of the X-linked syndrome. CD43 was characterized on peripheral blood lymphocytes and long-term EBV-transformed B cell lines, both to further analyze the molecular defects of WAS, as well as to attempt to generate a reproducible method for disease detection. Surprisingly, surface expression, molecular weight and two-dimensional gel analysis failed to demonstrated any reproducible differences in the CD43 expression, whether from disease or normal lymphocytes. Such results suggest possible heterogeneity of this syndrome.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
5/14. Successful unrelated cord blood transplantation in an infant with wiskott-aldrich syndrome following recurrent cytomegalovirus disease.We describe successful unrelated cord blood transplantation in a 14-month-old boy with wiskott-aldrich syndrome. He had been suffering from recurrent cytomegalovirus (CMV) pneumonia. ganciclovir was given pretransplantation and posttransplantation, and CMV antigenemia was monitored as a marker of reactivation. The conditioning regimen was cyclophosphamide, busulfan, and antithymocyte globulin. The patient received an HLA 1-locus-mismatched cord blood unit, and the total number of infused nucleated cells was 9.0 x 10(7)/kg. Neutrophil engraftment was achieved on day 20, and a platelet count greater than 50 x 10(9)/L was achieved on day 51. A normal lymphoproliferative response to phytohemagglutinin mitogen was detectable 7 months posttransplantation. Long-term use of ganciclovir prevented CMV reactivation and did not compromise engraftment.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
6/14. Epstein-Barr virus associated post-transplantation lymphoproliferative disorder with hemophagocytosis in a child with wiskott-aldrich syndrome.A 23-month-old boy with wiskott-aldrich syndrome (WAS) received human leukocyte antigen (HLA)-one locus mismatched, unmanipulated allogeneic bone marrow graft from his mother. An Epstein-Barr virus (EBV)-associated post-transplantation lymphoproliferative disorder (PTLD) of donor cell origin and hemophagocytosis syndrome with fever, lymphadenopathy, hepatosplenomegaly, seizures, involuntary movements and pancytopenia developed 52 days after transplantation. It was difficult to decide on the treatment strategy because the patient presented with B-cell hyperplasia that morphologically appeared malignant but was oligoclonal by heavy-chain analyses. Despite of donor leukocyte transfusion, low dose chemotherapy, and anti-B cell monoclonal antibody immunotherapy, the patient died 107 days after transplantation.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
7/14. Serial transplantation of mismatched donor hematopoietic cells between HLA-identical sibling pairs with congenital immunodeficiency: in vivo tolerance permits rapid immune reconstitution following T-replete transplantation without GVHD in the secondary recipient.We report serial transplantation procedures in 2 sets of brothers with X-linked primary immunodeficiency. The first boy in each family received a T-cell-depleted transplant from a mismatched donor. The recipients then acted as donors for T-replete transplantation of the "tolerized" graft into their HLA-identical brothers with the same disorder. Immune reconstitution was noted to occur at a significantly faster rate in the secondary recipients, and without the occurrence of graft-versus-host disease (GVHD), despite the presence of donor cells mismatched for 1 to 3 hla antigens. This serial transplantation technique allows the primary recipient of HLA-mismatched donor cells to act as a functionally "HLA-matched" donor for subsequent affected siblings, and should be considered as a therapeutic option in families with congenital disorders.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
8/14. Fatal B-cell lymphoproliferative syndrome in allogeneic marrow graft recipients. A clinical, immunobiological and pathological study.We have studied four cases of fatal B-cell lymphoproliferative syndrome (LPS) developing among 333 patients (incidence 1.2%) treated with allogeneic bone marrow transplantation (BMT). All four patients had received a T-cell depleted graft. Onset of the first clinical symptoms (palpable lymph node enlargement in three and IgA-lambda paraproteinemia in two patients) occurred between 41 and 188 days post-BMT (median 76 days). The course of the LPS was rapidly progressive in all cases, leading to death in 2-5 weeks. The peripheral blood showed progressive pancytopenia with disproportionally high numbers of activated NK cells, apparently compensating for the T-cell deficiency. Post-mortem histological studies disclosed polymorphic B-cell proliferations, most pronounced in the lymph nodes, spleen, liver, lungs and kidneys. Lymphohemopoietic cells were of donor origin in three patients. In the fourth patient, graft failure suggested a host origin for the proliferating cells. immunophenotyping and gene rearrangement analysis revealed polyclonal proliferation in one patient, monoclonal proliferation in another patient, and an oligoclonal pattern in the other two patients. The clinical behavior of the LPS was independent of clonality. Immunohistologically, the proliferating cells showed characteristics of relatively mature B-cells in three cases, and pre-B-cell features in one case. Epstein Barr virus (EBV) serology indicated seroconversion (primary infection) in one child, and chronic active EBV infection in both adults. EBV dna as well as EBV nuclear antigen (EBNA) were detected in infiltrated tissues of all four patients. The labeling pattern on in situ hybridization suggested a replicative EBV infection comparable to that in lymphoblastoid cell lines. We conclude that EBV-associated LPS developing as a result of post-transplant immunodeficiency is a distinct clinicopathologic entity, differing from non-Hodgkin's lymphoma (including Burkitt's lymphoma) and infectious mononucleosis of the immunocompetent host.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
9/14. Immunologic and clinical investigation on a bovine thymic extract. Therapeutic applications in primary immunoedificiencies.Thirteen patients with primary immunodeficiencies (eight with T-cell deficiency, one with Wiskott-Aldrich (W-A) syndrome, two with common variable agammaglobulinemia (CVA), and two with severe combined immunodeficiency (SCID) were treated with a calf thymus extract, called thymostimulin (TS). It has been shown that this extract causes in vitro differentiation of T-cell precursors in patients with T-cell defect. Five of eight patients with pure T-cell defect showed immunologic recovery and clinical remission lasting for several months after interruption of the therapy; one had only transient reconstitution, one had slight increase in T-cells (clinical conditions not yet estimated), and two patients soon died from severe infections after showing a slight increase of T-cells. Immune recovery was assess by an increase of the absolute number of E-rosettes forming cells, of human T-lymphocyte antigen positive cells and of PHA responsiveness in the peripheral blood, and by a positive delayed hypersensitivity reaction to antigens. In five patients, there was also B-cell increase after TS treatment. Clinical remission consisted of disappearance of infections, weight gain, and in improvement in general conditions. No effect was observed in one patient with W-A syndrome, in two with CVA, and in two with SCID. Several hypotheses on the mechanisms involved in immune reconstitution are discussed. It seems likely that TS acts on prethymic cells or on the epithelial cells of hypoplastic thymuses. TS was not effective, either in vitro or in vivo, in patients with SCID probably because of a defect in stem cells.- - - - - - - - - - ranking = 2keywords = antigen (Clic here for more details about this article) |
10/14. Viral hepatitis b and wiskott-aldrich syndrome.A 4-year-old boy affected by wiskott-aldrich syndrome had overt viral hepatitis b after repetitive blood transfusions. He was given immune serum containing HBs antibodies, with only transient improvement. The HBsAg titer decreased immediately after each administration of immune serum, but 2 days later it was higher than before. This effect could be explained by the presence of HBs antigen-HBs antibody complexes in the immune serum, not detected by the current testing procedure.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
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