Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038002 (splenomegaly)
 9,873 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 24 year old male with a history of eczema, recurrent mild infections, and thrombocytopenia consistent with the Wiskott-Aldrich syndrome (WAS) presented with a mediastinal mass, generalized lymphadenopathy, splenomegaly, and severe thrombocytopenia. Studies of immune function including immunoglobulin levels and T-cell subsets were normal. Furthermore, his T lymphocytes proliferated normally in response to phytohemagglutinin, concanavalin A, and the combination of neuraminidase/galactose oxidase. However, their proliferative responses to anti-CD43 antibody and periodate were diminished, consistent with the clinical diagnosis of WAS. An initial inguinal lymph node biopsy surprisingly revealed Kaposi sarcoma. However, following splenectomy to increase the platelet count, biopsy of the mediastinal mass revealed T-cell large cell lymphoma. Studies of biopsied tissue for the presence of Epstein-Barr virus and cytomegalovirus were negative, as were studies of blood, including the polymerase chain reaction, for the presence of the human immunodeficiency virus (HIV). This is the first report of Kaposi sarcoma arising in a patient with a congenital immunodeficiency syndrome. Although Kaposi sarcoma can arise in the face of the severe immunosuppression that follows allograft transplantation and in patients infected with HIV, we postulate that longevity in the face of mild immunosuppression was the major factor in the development of Kaposi sarcoma in this patient.
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PMID:Coincident Kaposi sarcoma and T-cell lymphoma in a patient with the Wiskott-Aldrich syndrome. 131 18

A 6-yr-old girl is described who presented with failure to thrive at age 3 months and was found to have mental retardation, growth retardation, disproportionately large head, distinctive face, abnormal hair, eczema, heart defect, splenomegaly, and multiple hemangiomata. She is thought to have the cardio-facio-cutaneous syndrome and to be the first such case identified in Britain.
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PMID:A case of cardio-facio-cutaneous syndrome. 259 6

A 68-year-old Japanese man with a chief complaint of eczema-like dermatosis was diagnosed as having B-cell hairy cell leukemia (HCL) by demonstration of hairy cells in the skin lesions as well as in blood and bone marrow. He was treated with alpha-interferon, resulting in disappearance of skin lesions and reduction of his massive splenomegaly from 18 to 5 cm in about 14 months. Although specific skin lesions in HCL, shown by a review of the literature to occur in about 8% of cases, are not as uncommon as generally assumed, it is rare for HCL to present with specific skin lesions, the present case being only the second of its type mentioned in the literature.
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PMID:Specific skin lesions as the presenting symptom of hairy cell leukemia. 305 17

12 patients with Wiskott-Aldrich syndrome were treated with therapeutic doses of transfer factor in an attempt to induce cellular immunity. Clinical improvement was noted after transfer factor therapy in 7 of the 12 patients treated. Because this disease has a variable course and temporary spontaneous improvement can occur, the observed improvement cannot necessarily be attributed to the transfer factor. However, in two patients repeated remissions consistently followed transfer factor administration on repeated occasions. This included freedom from infections, regression of splenomegaly, and clearing of eczema. An unexpected finding was a decrease in bleeding in 3 of the 10 patients who had bleeding. Conversion of skin reactivity was obtained in all seven patients who clinically seemed to respond to transfer factor. In vitro studies performed after the administration of transfer factor demonstrated that the lymphocytes of the patients now produced migration inhibitory factor in response to appropriate test antigens, but did not undergo increased radioactive thymidine incorporation in response to the same antigens. A defect in the monocyte IgG receptors has been found in certain patients with the disease, and the current study shows that all patients with defective monocyte IgG receptors responded to transfer factor, whereas only one patient with normal receptors showed any response. This test may thus prove to be useful in predicting the results of transfer factor therapy in patients with Wiskott-Aldrich syndrome, although evaluation of a larger series of patients will be necessary to confirm this point. We conclude that cellular immunity can be induced, that there appears to be clinical benefit in certain patients with Wiskott-Aldrich syndrome by the use of transfer factor, and that this mode of therapy warrents trial in these patients and others with defects of cellular immunity.
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PMID:The Wiskott-Aldrich syndrome. Results of transfer factor therapy. 464 Sep 55

X-linked thrombocytopenia with thalassemia (XLTT; Online Mendelian Inheritance in Man [OMIM] accession number 314050) is a rare disorder characterized by thrombocytopenia, platelet dysfunction, splenomegaly, reticulocytosis, and unbalanced hemoglobin chain synthesis. In a 4-generation family, the gene responsible for XLTT was mapped to the X chromosome, short arm, bands 11-12 (band Xp11-12). The maximum lod score possible in this family, 2.39, was obtained for markers DXS8054 and DXS1003, at a recombination fraction of 0. Recombination events observed for XLTT and markers DXS8080 and DXS8023 or DXS991 define a critical region that is less than or equal to 7.65 KcM and contains the gene responsible for the Wiskott-Aldrich syndrome (WAS; OMIM accession number 301000) and its allelic variant X-linked thrombocytopenia (XLT; OMIM accession number 313900). Manifestations of WAS include thrombocytopenia, eczema, and immunodeficiency. In WAS/XLT the platelets are usually small, and bleeding is proportional to the degree of thrombocytopenia. In contrast, in XLTT the platelet morphology is normal, and the bleeding time is disproportionately prolonged. In this study no alteration in the WAS gene was detected by Northern blot or Western blot analysis, flow cytometry, or complimentary DNA dideoxynucleotide fingerprinting or sequencing. As has been reported for WAS and some cases of XLT, almost total inactivation of the XLTT gene-bearing X chromosome was observed in granulocytes and peripheral blood mononuclear cells from 1 asymptomatic obligate carrier. The XLTT carrier previously found to have an elevated alpha:beta hemoglobin chain ratio had a skewed, but not clonal, X-inactivation pattern favoring activity of the abnormal allele. Clinical differences and results of the mutation analyses make it very unlikely that XLTT is another allelic variant of WAS/XLT and strongly suggest that X-linked thrombocytopenia mapping to band Xp11-12 is a genetically heterogeneous disorder.
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PMID:Mapping of a syndrome of X-linked thrombocytopenia with Thalassemia to band Xp11-12: further evidence of genetic heterogeneity of X-linked thrombocytopenia. 1073 94

Dietary pulverized konjac glucomannan (PKGM) suppresses the development of eczema in NC/Nga mice, a model of atopic dermatitis (AD). Although NC/Nga mice were originally recognized as an autoimmune disease model, recent studies on their autoimmunity are still poorly performed. Here, we show that cervical lymphadenopathy, splenomegaly, and increases in plasma levels of anti-dsDNA, rheumatoid factor IgG autoantibodies, and B cell-activating factor of the TNF family (BAFF) were co-elicited in eczematous NC/Nga mice; however, these symptoms were all prevented in PKGM-fed mice. Our results imply the possible involvement of autoimmunity on the pathogenesis of dermatitis and hyper-IgE syndrome in NC/Nga mice. PKGM might be effective in preventing autoimmune responses in AD.
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PMID:Development of autoantibody responses in NC/Nga mice: its prevention by pulverized konjac glucomannan feeding. 1793 42

A male infant exhibited thrombocytopenia at birth, and later developed leukocytosis, monocytosis, and bloody stool. The bone marrow was hypercellular with dysplasia. Spontaneous granulocyte/macrophage-colony formation and hypersensitivity to granulocyte/macrophage-colony stimulating factor were confirmed by in vitro culture. These findings fulfilled most of the diagnostic criteria for juvenile myelomonocytic leukemia (JMML), with the exception of splenomegaly. However, no mutations in the PTPN11, RAS, and CBL genes, or clinical features of neurofibromatosis type 1, which are associated with JMML, were detected. The patient subsequently developed refractory eczema with undetectable serum IgM, which led to the consideration of Wiskott-Aldrich syndrome (WAS). Lack of WASP expression and a 4-nucleotide deletion mutation in WASP were identified. Approximately 20 % of patients with JMML show none of the abovementioned molecular abnormalities. Careful differential diagnosis, including the consideration of WAS, is, therefore, recommended in patients with clinical features and laboratory findings consistent with JMML.
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PMID:Wiskott-Aldrich syndrome with unusual clinical features similar to juvenile myelomonocytic leukemia. 2273 31