Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The case is reported of a 4-year-old girl affected with recurrent infections; anaemia, thrombocytopenia, haemorrhages and hepatosplenomegaly. Immunological investigations revealed a defect in cellular immunity related to the thymus-dependent system, hypergammaglobulinaemia (especially of class IgE), and very high titres of antibodies against Epstein-Barr virus (EBV). After foetal thymus transplantation, correction of the immunological defect and significant clinical improvement were noted, as well as a decrease of IgE and EBV antibody titres.
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PMID:Thymus transplantation. Reconstitution of cellular immunity in a four-year-old patient with T-cell deficiency. 17 Nov 11

A patient with IgE myeloma, presenting with bone lesions and modest anemia without plasma cell leukemia or hepatosplenomegaly, is described. The findings are compared with those of other patients with this and the more common forms of multiple myeloma.
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PMID:IgE myeloma presenting with classical myeloma features. 82 90

A girl aged 14 years, who showed local skin lesions and generalized reactions such as fever, hepatosplenomegaly, hypergammaglobulinaemia and pancytopenia following mosquito bites, has been evaluated with various immunological methods. The intracutaneous tests, P-K tests and RAST confirmed the presence of specific IgE antibody against mosquito antigens, but no precipitating antibody was detected by either the double immunodiffusion or immunofluorescent antibody techniques. As far as the type IV reaction is concerned, the skin test failed to show a positive delayed skin reaction, but the lymphocyte incorporation of 3H-TdR exhibited a maximal response with smaller doses than the controls.
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PMID:A case of mosquito allergy. Immunological studies. 82 12

A 36-year-old male was admitted to the Ehime University Hospital with anemia, eosinophilia and hepatosplenomegaly. Peripheral blood examination demonstrated severe anemia (Hb 7.1g/dl), thrombocytopenia (Plt 6.8 x 10(4)/microliters) and increase of peripheral leukocyte counts (53,000/microliters) with 32.0% of eosinophils which had lobulated nuclei, abnormal distribution of eosinophilic granules and a few vacuoles. The level of serum IgE was low (< 5IU/ml), while that of serum vitamin B12 was elevated. A diagnosis of eosinophilic leukemia was made. He was noted to have spontaneous fluctuations in his eosinophil and total leukocyte counts. To analyze the mechanism of cyclic eosinophilic leukocytosis, we examined eosinophil colony stimulating activity of the serum and plasma of the patient. These examination showed that eosinophil colony-stimulating activity was not found in his serum and plasma, and cyclic eosinophilic leukocytosis was due to the hemopoietic stem cell disorder.
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PMID:[Eosinophilic leukemia with cyclic eosinophilic leukocytosis]. 147 3

We report a patient with systemic plasmacytosis with polyclonal hyperimmunoglobulinemia who at presentation showed a blood and bone marrow picture suggestive of plasma cell leukemia. A 78-year-old woman was admitted to our hospital because of marked hepatosplenomegaly and generalized lymphadenopathy. She had leukocytosis with 42% plasmacytes, and plasma cells were increased also in her bone marrow (32.6%). She had marked polyclonal hyperimmunoglobulinemia with increased IgG, IgA and IgE. IgM and IgD were normal. She complained of cough and dyspnea. Her general condition was too poor to remove a lymph node for pathological examination. After treatment with daunorubicin, vincristine and prednisolone (DVP), her lymphadenopathy diminished rapidly, the immunoglobulins decreased and the plasma cells in her blood disappeared. She achieved a complete remission and has been in good condition without further treatment for 24 months.
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PMID:[Systemic plasmacytosis with polyclonal hypergammaglobulinemia and numerous plasma cells in the blood]. 157 43

Systemic mast cell disease (SMCD) is a rare disease often associated with symptoms of general malaise, pruritus, diarrhea, vomiting, fever, urticaria pigmentosa, hepatosplenomegaly and lymphadenopathy. We reported a case of SMCD associated with cutaneous xanthoma and serum hyper IgE. Skin biopsy revealed xanthomas and diffuse infiltration of mast cells in the dermis. The association of SMCD with xanthoma was reported in the literature for only one case. The hyper IgE could be due to the defect of IgE receptors on the cell membrane of mast cells of dysfunction of T and/or B cell. Any of the treatment using H1 and H2 receptor blockade, disodium cromoglycate, adrenocorticosteroid or chemotherapy (VEPA) were not effective. The patient died of pulmonary edema and multiple organ failure 7 months after the diagnosis was established. The crush method for the cytological examination of bone marrow was considered more useful than smear method for the diagnosis of SMCD.
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PMID:[Systemic mast cell disease associated with cutaneous xanthomas and markedly elevated serum IgE]. 224 20

A 21-year-old woman had suffered from repeated vasculitis and panniculitis with fever and chills after following mosquito bites since age 7. These manifestations were confirmed with a direct mosquito bite test during her admission to another hospital at age 17. The patient presented to our hospital with progressive dyspnea, productive cough and intermittent fever for one week. In addition to the bilateral infiltrative lesions on chest roentgenography, hepatosplenomegaly with an abnormal liver function test, pancytopenia, and elevated IgE were also detected. Blood and sputum cultures grew no microorganisms. Epstein-Barr virus-IgM, Cytomegalovirus-IgM and Mycoplasma pneumonia antibodies were all negative. Bone marrow aspiration and biopsy revealed histiocytosis with hemophagocytosis. No atypical histiocyte was found. The patient was put on dexamethasone treatment with improvement. Unfortunately, symptoms relapsed two weeks later. A repeated bone marrow aspiration and biopsy revealed a picture similar to the previous one. Despite antibiotic administration and ventilator support, a rapidly deteriorated course terminated in the patient's death by respiratory failure. Mosquito bite allergies were reported to be associated with malignant histiocytosis in Japan. However, atypical histiocytes were not found in our case upon repeated bone marrow aspirations, biopsies and skin biopsies. Mature histiocytes with hemophagocytosis were prominent instead. Reactive histiocytosis was thus favored rather than malignant histiocytosis. Although opportunistic infection cannot be excluded, we propose that a mosquito bite allergy with consequent histiocytic activation by antigen, immune complex or IgE is the possible pathogenetic mechanism for hemophagocytic histiocytosis in this patient.
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PMID:[Mosquito bite allergies terminating as hemophagocytic histiocytosis: report of a case]. 257 73

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

Specific antischistosomal IgG, IgM, and IgE were estimated by ELISA in 117 rural school students before specific treatment with praziquantel monthly for 3-4 months thereafter. IgG and IgM were estimated as percentage of bound antibodies. IgE was estimated by avidin-biotin ELISA (AB-ELISA) as IU/ml using a panel of known IgE standards. Soluble surface Schistosoma mansoni adult worm antigen was used for all estimates. Total IgE was estimated in a smaller group by an ELISA kit. The percentage of specific IgE was calculated. A group of endemic controls (22 students) and non-endemic controls (17 cases) were included. Statistical analysis of results showed the specific immunoglobulins to be significantly reduced 2 months after treatment of the schistosomal cases. These reduced levels, however, were still significantly higher than those of controls. The presence of early hepatosplenomegaly and the co-existence of other parasites had no significant influence on the results. No correlation could be established between the levels of specific antischistosomal IgG, M and E and the intensity of infection. The significance of these results is discussed.
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PMID:Effect of praziquantel on certain immune responses of schistosomal Egyptian patients. I. Changes of specific immunoglobulins. 311 68

A 7 month old female infant was affected by a rapidly fatal familial disease highly reminiscent of Omenn's syndrome. She presented with widespread eczematous lesions, hepatosplenomegaly, superficial lymphadenopathy, peripheral blood lymphocytosis, eosinophilia and hyper-IgE. An axillary lymph node was involved by a marked proliferation of T-3 +/T-10-- lymphocytes admixed with S-100+/T-6+/Leu-3a+/Ia + reticular cells which lacked typical LC granules; cell suspension study revealed that 90%-96% of the lymph node cells were T-11+/T-3+ lymphocytes characterized by low expression of Leu-3a and T-8 antigens and by high expression of Ia antigens (52%). Peripheral blood T lymphocytes exhibited a similar distribution of surface phenotypes. The patient died of interstitial pneumonia and an autopsy was performed. The thymus was markedly atrophic and completely devoid of lymphocytes. The peri-arteriolar lymphoid sheets of the spleen were poorly developed and were mainly composed of T-8+ lymphocytes. The mediastinal nodes were rudimentary and were populated by T-3+/T-10+ lymphocytes with low expression of Leu-3a and T-8 antigens. Our results raise the possibility that Omenn's syndrome is a peculiar primary immunodeficiency in which, despite early thymic involution, some abnormal T lymphocytes still develop in the peripheral lymphoid organs. Antigenic triggering of these cells might result in prominent proliferations of T lymphocytes and Langerhans-like cells which lead to the clinical manifestation of the disease.
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PMID:The Omenn's syndrome: histological, immunohistochemical and ultrastructural evidence for a partial T cell deficiency evolving in an abnormal proliferation of T lymphocytes and S-100 +/T-6 + Langerhans-like cells. 392 27


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