UMLS:C0019214 - FACTA Search

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Query: UMLS:C0019214 (hepatosplenomegaly)
4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report four cases of Omenn's syndrome (OS), an autosomal recessive disease characterized by early erythrodermia, protracted diarrhea, severe infections, lymphadenopathy, hepatosplenomegaly, failure to thrive, and leukocytosis with marked eosinophilia. The immunological investigations revealed B lymphopenia with increased levels of serum IgE and marked depression of T-cell activation, not restored by the addition of exogenous interleukin 2 (IL-2). IL-2 and interferon-gamma (IFN-gamma) production in vitro were very low or absent. One patient was treated with HLA-identical bone marrow transplant with a complete remission of the clinical picture and the immunological defect. The infant died of graft versus host disease 4 months after the graft. For the remaining three infants the outcome was also fatal within the first year of life. In conclusion, OS should be considered a severe combined immunodeficiency disease with peculiar clinical, immunological, and histological findings.
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PMID:Clinical and immunological findings in four infants with Omenn's syndrome: a form of severe combined immunodeficiency with phenotypically normal T cells, elevated IgE, and eosinophilia. 311 64

A 13-year-old girl with the severe form of the Maroteaux-Lamy syndrome (mucopolysaccharidosis Type VI, arylsulfatase B deficiency) has had successful reconstitution with bone marrow from her HLA-MLC-matched sister who had normal arylsulfatase B activity. Full engraftment has been present for 24 months. The following biochemical and clinical changes have occurred: arylsulfatase B activity in peripheral lymphocytes and granulocytes increased to normal levels, and the activity in serial liver-biopsy specimens increased from about 3 per cent of the mean normal level 43 days after transplantation to about 16 per cent at 600 days. Urinary excretion of acid mucopolysaccharide decreased. Ultrastructural evidence of accumulated dermatan sulfate was no longer detectable in bone-marrow cells; in peripheral-blood lymphocytes, granulocytes, or platelets; or in Ito cells of liver. Twenty-four months after engraftment, hepatosplenomegaly was substantially decreased and cardiopulmonary function was normal. Visual acuity and joint mobility were also improved. The patient returned to school and continued to perform well in academic studies. Thus, bone-marrow transplantation provided a source of enzymatically normal cells, which have altered the metabolic and clinical course of the disease.
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PMID:Bone-marrow transplantation in the Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). Biochemical and clinical status 24 months after transplantation. 615 Apr 38

Twenty-one patients are described with a proliferation of morphologically mature T lymphocytes. The clinical course was chronic in most, and splenic enlargement the main clinical finding; skin involvement and lymphadenopathy were rare. The mean lymphocyte count at presentation was 8 X 10(9)/1 (range 0.75-24 X 10(9)/1). Nineteen of these patients showed some form of cytopenia (18 neutropenia, two red cell aplasia, eight thrombocytopenia) and one had hypogammaglobulinaemia. Seven patients had long-standing arthropathy serologically proven to be rheumatoid arthritis and these had previously been considered to have Felty's syndrome. Five of the group have died (three with an aggressive course), but most have remained stable for prolonged periods with a slow increase in peripheral lymphocyte count and marrow infiltration. Spontaneous regression was never observed but in two patients a prolonged remission was achieved by chemotherapy. The lymphocytes were morphologically and phenotypically homogeneous at presentation and remained so post-splenectomy; they contained azurophilic granules, stained with acid phosphatase but weakly or not at all with alpha napthyl acetate esterase. Membrane phenotyping shows the majority of the cells to be E+, Fc gamma+, OKT3+, OKT8+. Most cells do not stain with OKT1-like reagents and a significant number express HLA-Dr. From these and other reported cases it is clear that this condition represents a distinct entity resulting from the expansion of a subset of cytotoxic/suppressor T cells--the question of the benign or neoplastic nature of the disease remains open. Using T cell-specific antisera and E-rosetting techniques, a small percentage of CLL cases have been shown to be of T-cell origin (TCLL) (Dickler et al, 1973; Lille et al, 1973). Estimates of the percentage vary but in most series T-CLL has been diagnosed in less than 5% (Brouet & Seligmann, 1981), and this is supported by date from the M.R.C. Leukaemia Unit which found T-CLL in only 1.5% of 600 cases of CLL examined by marker studies (D. Catovsky, unpublished). Amongst the published reports of T-CLL a variety of clinical and morphological entities have been described including T prolymphocytic leukaemia (TPLL) (Brouet et al. 1975) and adult T cell disease in Japanese (Uchiyama et al, 1977) and West Indian Caribbean groups (ATLL) (Catovsky et al, 1982). In the original series of Brouet & Seligmann (1981) the group was defined as presenting in middle age with marked hepatosplenomegaly, some lymphadenopathy, skin involvement and with an aggressive disease course; peripheral blood and marrow lymphocytosis were variable.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Chronic T cell lymphocytosis: a review of 21 cases. 633 88

This study is based on an analysis of the morphologic, clinical, and laboratory findings in 26 patients whose pretherapy lymph node biopsies showed some, but not all, of the diagnostic features of angioimmunoblastic lymphadenopathy with dysproteinemia (AILD). Partial or complete effacement of nodal architecture by a diffuse lymphoplasmacytic and immunoblastic proliferation was a constant histologic finding. In contrast to the findings in AILD, lymphocytic depletion and pronounced arborizing vascular proliferation were often lacking. Clinically, many of the patients had fever, sweats, weight loss, skin rashes, generalized lymphadenopathy, hepatosplenomegaly, and, in some cases, pulmonary infiltrates. Of the 26 patients, 23 had clinical and/or laboratory evidence of autoimmune disease or immune complex disease. In 12 patients (Group I--idiopathic), various autoantibodies or immune complexes were demonstrable, but these patients did not manifest a well-defined immunologic disease or syndrome. In 11 patients (Group II--secondary), the lymphadenopathy occurred secondary to a well-defined, clinically recognized immunologic disease. Three patients (Group III) had neither a well-defined autoimmune disease nor demonstrable autoantibodies, but two of them had a history of exposure to antibiotics. We suggest that patients whose lymph nodes have the morphologic features described here frequently have an autoimmune disorder, and that the pathogenesis of this clinicopathologic picture is probably related to a deficiency in suppressor T-cell function which results in an unopposed proliferation of B cells with autoantibody formation and polyclonal gammopathy. Our observations should stimulate clinicians to consider the possibility of an autoimmune pathogenesis for a lymphadenopathy in which a florid lymphoplasmacytic and immunoblastic proliferation similar to that observed in AILD is demonstrated, even though the sections may not meet all the histologic criteria reported for the diagnosis of AILD. Clinical and laboratory investigations necessary to confirm the presence of autoimmunity are indicated in these cases. Moreover, since there is evidence of genetic factors predisposing to autoimmune disease (17, 43), it would be important to investigate close relatives of patients whose lymph nodes showed the histologic changes described in this paper in prospective studies which include suppressor T-cell function, autoantibodies, HLA type of blood lymphocytes and chromosomal analysis. The median survival of the 23 patients with stigmata of autoimmune disease or immune complex disease was 36 months.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Atypical lymphoplasmacytic and immunoblastic proliferation in lymph nodes of patients with autoimmune disease (autoimmune-disease-associated lymphadenopathy). 638 57

Severe chronic active Epstein-Barr virus (EBV) infection is a lymphoproliferative disease characterized by extremely high antibody titers to EBV, fever, lymphadenopathy, hepatosplenomegaly, and pancytopenia, without any prior immunological abnormality. A spontaneous lymphoblastoid cell line was established from a 4-year-old boy with severe chronic active EBV infection. Immunofluorescence and Western blotting analyses showed that the cell line was of B cell origin and expressed Epstein-Barr nuclear antigens 1, 2 3a, 3b and 3c, and latent membrane protein 1, which are reported to be targets for EBV-specific cytotoxic T lymphocytes (CTL). The cytotoxicity of peripheral blood mononuclear cells derived from the patient and his HLA-identical sister was assayed against the cell line. The cell line was recognized and killed by anti-EBV CTL derived from the HLA-identical sister, but the patient's peripheral blood mononuclear cells had no cytotoxicity. We conclude that antigen presentation in the EBV-infected cells from the patient is intact and sufficient for generation of an EBV-specific CTL response. These observations suggest that severe chronic active EBV infection may not be caused by impaired EBV-antigen presentation of the infected cells but by impaired cellular immune responses to the virus. Our results also suggest the therapeutic possibility that this disease may be treated by adoptive transfer of EBV-specific CTL or bone marrow transplantation from an HLA-matched donor whose immune response to EBV is intact.
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PMID:Intact antigen presentation for Epstein-Barr virus (EBV)-specific CTL by a lymphoblastoid cell line established from a patient with severe chronic active EBV infection. 750 Sep 12

This study describes a series of immunological investigations carried out on a group of 37 HIV-seropositive children, aged 3-4 years, in two different stages of disease defined according to the CDC classification; the Primary stage, an asymptomatic one, showing abnormal immune function (P1-Class, B-Subclass) and the Secondary stage, 6-8 months later, in which patients exhibited non-specific findings, i.e., loss of weight, persistent generalized lymphadenopathy and hepatosplenomegaly, associated with abnormal immune function (P2-Class, A-Subclass). In both stages, immune function was considered 'abnormal' when lymphopenia and a decrease of the CD4/CD8-cell ratio were found. The phenotypes CD16+/56+ (NK) and HLA-DR+/CD3+ (T-activated?)-positive cells, were assessed by flow cytometry, and the following supplementary systemic humoral markers were investigated in homologus serum samples; total HIV(gp)-antibody, HIV(p24)-antibody and p24-antigen presence. If at the primary stage, no significant difference from to the reference values corresponding to the age was noticed, at the Secondary stage the obtained data is presented separately in two subgroups, namely the A-subgroup characterized by the presence of total HIV(gp)-antibody, the presence of HIV(p24)-antibody and the absence of p24-antigenaemia, and the B-subgroup, where total HIV(gp)-antibody was present, HIV(p24)-antibody absent and p24-antigenaemia present. A significant decrease of CD16+/56+ (NK)-cells was found within the two subgroups. As far as HLA-DR+ from CD(3+)-cells was concerned, only those within the B-subgroup showed a high percentage level, compared to the reference values. The importance of the present findings, linked to immune monitoring of HIV infection among children, is discussed.
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PMID:Changes of blood CD16/CD56 (NK) and HLA-DR/CD3-positive lymphocyte amounts in HIV-infected children, as related to clinical progression and p24-antigen/p24-antibody presence. 752 81

Mononucleosis is defined as atypical lymphocyte proliferation which causes clinical symptoms such as tonsillitis, lymphadenopathy, or hepatosplenomegaly. Mononucleosis syndrome is caused by cytomegalovirus (CMV), Toxoplasma, hepatitis virus, adenovirus, or other agents as well as by Epstein-Barr virus. The syndrome is immunologically characterized by the proliferation of activated T cells (HLA-DR+ T cells). We encountered three infants with hepatosplenomegaly who were diagnosed as primary CMV infection by the detection of anti-CMV IgM antibody. Although the patients were otherwise asymptomatic, analysis of lymphocyte subpopulations showed a decreased ratio of CD4+ to CD8+ T cells and augmented expression of HLA-DR antigen on T cells characteristic of infectious mononucleosis. We conclude that inapparent CMV disease may affect the immunologic status of infected children even if it is asymptomatic.
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PMID:Peripheral blood lymphocyte subpopulations in three infants with hepatosplenomegaly caused by cytomegalovirus infection. 764 91

Patients with lysosomal storage disorders have visceral, skeletal, and neurological abnormalities and a limited life expectancy. Bone marrow transplantation has been used to correct the metabolic defects and leads to metabolic improvements in most patients. However, the long-term effect of such therapy is uncertain. We analysed the data from 63 patients transplanted for lysosomal storage diseases. The transplant-related mortality was 10% if an HLA-identical sibling marrow donor was available (n = 40) and 20-25% if mismatched tissue was used. Data on the effect of bone marrow transplantation on biochemical and clinical disease variables were available in 29 of the 63. 28 had a follow-up duration of 1.0-10.2 years; 1 patient died of disease progression in the first year after stable engraftment. 13 patients who had severe neurological symptoms at the time of transplantation showed disease progression. Engraftment of bone marrow in 5 patients with non-neuronopathic Gaucher's disease led to complete disappearance of symptoms. 11 patients had skeletal symptoms because of various mucopolysaccharidoses (MPSs). There was stabilisation of the skeletal lesions during the observation period of 1.4-6.4 years, but none of the patients showed significant regression of the skeletal symptoms. The visceral features (hepatosplenomegaly, cardiac hypertrophy, and upper airway obstruction) in these patients abated after transplantation. We could not evaluate the biochemical and clinical variables in 34 patients because of graft rejection, transplant-related mortality, or follow-up of less than 1 year. There were significant beneficial effects of bone marrow transplantation in patients with non-neuronopathic Gaucher's disease. Stabilisation of disease was observed in patients with MPS-I and MPS-II; this potential benefit needs to be confirmed by longer follow-up. Bone marrow transplantation was not effective if severe neurological symptoms were already present at the time of transplantation.
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PMID:Allogeneic bone marrow transplantation for lysosomal storage diseases. The European Group for Bone Marrow Transplantation. 776 Jun 4

An important disease entity distinct from cutaneous T-cell lymphoma (CTCL) in Japan is adult T-cell leukemia/lymphoma (ATL), which shows almost the same phenotype as CTCL, ie, a helper/inducer T-cell phenotype (CD4-positive, CD8-negative), and usually involves the skin. This article describes differences between CTCL and ATL in terms of clinical and immunopathologic cell surface features. In patients with ATL, the predominant physical findings were lymph node, bone marrow and skin involvement, hepatosplenomegaly, leukemic manifestations, and an aggressive course. In patients with CTCL, in contrast, only skin lesions predominated at the onset of the disease and a relatively good prognosis was shown. The predominant phenotype of the neoplastic cells in the skin of patients with CTCL was CD3+, CD4+, CD29+, CD45RO+, HLA-DR+, HLA-DQ+, CD7-, L-selectin-, and CD45RA-. Some phenotypic discrepancy was found between the neoplastic cells in the peripheral blood, lymph nodes and skin of patients with ATL with respect to CD45RA and CD45RO, and CD7, CD29, CD25, and HLA-DR. That is, the predominant neoplastic cell phenotype was helper T-cell, which was CD3+, CD4+, L-selectin+, CD25+, CD45RA+, HLA-DR+, CD29-, and CD45RO- in peripheral blood, and CD3+, CD4+, L-selectin+, CD29+, CD45RO+, HLA-DR+, and CD45RA- in the skin and lymph nodes. Phenotypic heterogeneity of ATL cells and heterogeneity of CD45R isoform expression on ATL cells were evident in different organs. These findings confirm that the difference in antigen expression on the cell surface might reflect the clinical features of ATL and CTCL. CTCL cells do not share the same phenotype as ATL cells.
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PMID:Comparative study of cutaneous T-cell lymphoma and adult T-cell leukemia/lymphoma. 798 91

A 60-year-old Japanese woman was admitted to our hospital because of fatigue, weight loss and abdominal distension. Myelofibrosis was diagnosed, based on anemia, huge hepatosplenomegaly, leukoerythroblastosis and bone marrow fibrosis. Following treatment with ranimustine, anemia and splenomegaly improved. Seven months after initial therapy of ranimustine, however, polycythemia (RBC 7.39 x 10(6)/microliter; Hb 19.1 g/dl, Ht 65.9%) developed gradually, then RBC decreased to normal level following venesection (total 1,200 ml). After 32 months, blastic transformation occurred. The blasts were negative for myeloperoxidase. By flow cytometric analysis, the cells were positive for CD2, CD13, CD33 and HLA DR. Thus, AML (M0) was diagnosed. Despite of treatment with multicytotoxic agents, she died of DIC 36 months after the initial diagnosis of myelofibrosis. The progression from myelofibrosis to polycythemia is rare and only 15 cases have been reported so far. In addition, although a chromosomal abnormality, 46, XX, t(3; 12) (q25; p11), was present at the time of first diagnosis of myelofibrosis, the development of an additional abnormality, del(11) (q-), might be related to the transformation to AML.
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PMID:[A case of myelofibrosis that developed polycythemia vera following treatment with ranimustine and then acute myelogenous leukemia (M0)]. 882 83

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