Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Human fibroblast cell lines established from skin biopsies of patients with Wiskott-Aldrich syndrome (WAS), a sex-linked immunodeficiency disorder, were found to have unusually high sensitivity to SV40 infection. When examined by immunofluorescence, two of the cell lines showed almost 100% positive staining for tumor and viral antigens 4 days after infection, while the third cell line showed 75% positive cells for both antigens. Marked cytopathic changes were seen in infected cultures and viral yields of 10(8) pfu/ml were obtained. After six serial passages in WAS cells, the viral DNA was examined by restriction endonuclease analysis and found to have HindIII cleavage pattern similar to that of DNA from SV40 grown in monkey cells.
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PMID:High-titer SV40 replication in human fibroblast cell lines derived from patients with Wiskott-Aldrich syndrome. 631 84

Epstein-Barr (EB) virus serology was correlated with the results of immunological investigations of three inherited immunodeficiency diseases, in an attempt to understand the immune mechanisms controlling EB virus infection. In nine patients with Wiskott-Aldrich syndrome (WAS), the constant lack of anti-EB virus associated nuclear antigen (EBNA) was accompanied by a consistent impairment of allogeneic cytotoxicity. We confirmed a frequent absence of anti-EBNA antibody in ataxia telangiectasia (AT), and we showed a correlation between the level of anti-EBNA response and the mixed leucocyte response (MLR), i.e., an absence of anti-EBNA antibody correlated with a decreased MLR. In two of three untreated patients with Chediak-Higashi syndrome (CHS), high persistent titres of anti-EA antibodies were observed, which were possibly related to a defective natural killer (NK) cell activity. In spite of previous infection with EB virus, none of the 41 patients exhibited clinical signs attributable to the virus, suggesting that residual or compensatory mechanisms must have limited activation of the virus. In patients with AT and WAS these mechanisms may include NK cell activity, which is not depressed in these syndromes, whereas in patients with CHS, they may involve T cell cytotoxicity.
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PMID:Epstein-Barr serology in immunodeficiencies: an attempt to correlate with immune abnormalities in Wiskott-Aldrich and Chediak-Higashi syndromes and ataxia telangiectasia. 632 Oct 70

This study presents a 12-year-old girl with Wiskott-Aldrich syndrome variant, who developed acute glomerulonephritis without history of transfer factor therapy and the efficacy of splenectomy for the control of the patient's thrombocytopenia. The patient presented with eczema, severe thrombocytopenia and immunodeficiency. The impaired immunity was featured by impaired delayed hypersensitivity and lymphoproliferative response to nonspecific mitogen, low serum IgM, low isohaemagglutinins, recurrent infections and high IgE. She developed hematuria about one month prior to admission. For her severe thrombocytopenia splenectomy was performed and proved to be effective. At the time of splenectomy, renal biopsy was done and showed proliferative glomerulonephritis with coarse granular deposition of immunoglobulins (IgA and IgM) and C3. Electron microscopy demonstrated granular electron-dense deposits in the glomerulus, indicating an immune complex glomerulonephritis.
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PMID:Acute immune complex mediated glomerulonephritis in a Chinese girl with Wiskott-Aldrich syndrome variant. 637 82

We herein describe the first French case of successful bone marrow transplantation (BMT) in a patient with the Wiskott-Aldrich syndrome. Although the patient required hospitalization for a total of one year during his first 4 years of life for bleeding, eczema, protracted diarrhea and multiple infections, the bone marrow transplantation has permitted a complete and stable correction of the thrombocytopenia, the eczema and the immunodeficiency. The patient was prepared by a total body irradiation (850 rads) with a partial lung shielding and anti-lymphocyte globulins. The BMT was immediately followed by a severe but transient herpetic infection and acute graft versus host reaction (grade II) which resolved after steroid therapy. The thrombocytopenia disappeared 3 months after the BMT. The infections and the eczema did not reappear. Immune functions are entirely normal and all blood cells have been shown to be of donor origin (the sister of the recipient). The boy is growing normally and is doing well 3 1/2 years thereafter. He only suffered from bilateral cataracts secondary to the irradiation requiring lens extraction. One can now expect a success rate of 75% in bone marrow transplantation in patients with Wiskott-Aldrich syndrome as evaluated from a world review. In contrast, symptomatic treatment of the disease leads to a mean survival of 7 years, survival rarely exceeding 18 years.
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PMID:[Treatment of the Wiskott-Aldrich syndrome by a graft of allogeneic bone marrow]. 639 14

Three patients with the Wiskott-Aldrich syndrome were studied. One of them had no past history of relevant infections. The other two presented different degrees of humoral and cellular immunodeficiency and their T cells in vitro showed a defect in regulatory activity of Ig production in PWM stimulated cultures. This defect was not observed in the third patient. All three had normal numbers of B cells, producing normal amounts of Ig in vitro when co-cultured with normal T cells. It is suggested that the immunoregulatory T cell abnormality might play an important role in the pathogenesis of the humoral immunodeficiency.
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PMID:Disorders of regulatory T cell function in patients with the Wiskott-Aldrich syndrome. 660 33

Lymphocyte and neutrophil locomotion were studied in 23 patients with well defined, primary immunodeficiencies. These included eight patients with common variable immune deficiency, three patients with X-linked agammaglobulinaemia, two patients with the Wiskott-Aldrich syndrome, three patients with ataxia telangiectasia, three patients with immunodeficiency and normal serum immunoglobulin concentrations, one patient with immune deficiency and hyper-IgM syndrome, two patients with Job syndrome and one patient with a granulocyte adherence defect. Random and stimulated lymphocyte and neutrophil migration were evaluated. C5a and casein were used to stimulate lymphocyte migration and C5a and formyl-methionyl-leucyl-phenylalanine (f-MLP) were used to stimulate neutrophil migration. Significantly depressed lymphocyte migration in response to casein and C5a was observed in patients with common variable immune deficiency, patients with immune deficiency and normal immunoglobulin concentration, and patients with Job syndrome. No consistent defect in lymphocyte locomotion was observed in the other patients studied. Neutrophil migration in response to C5a and f-MLP was depressed in Job syndrome, the patient with a granulocyte adherence defect, one of the six patients with common variable immune deficiency and none of the remaining patients. No significant correlation of skin test reactivity and lymphocyte migration was noted, but a correlation between the degree of lymphocyte proliferation in response to phytohaemagglutinin and lymphocyte migration in response to casein was observed. The results presented indicate that aberrations in lymphocyte migration occur in several types of immunodeficiency diseases and that defects in lymphocyte and neutrophil migration can occur simultaneously or totally independent of each other.
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PMID:Abnormalities of lymphocyte locomotion in immunodeficiency disease. 661 60

The Wiskott-Aldrich syndrome is an X-linked immunodeficiency disorder consisting of the triad of frequent infections, eczema, and profound thrombocytopenia. We evaluated the effects of splenectomy on hemostatic improvement and subsequent clinical course in 16 patients with the Wiskott-Aldrich syndrome. All 16 had an increase in platelet counts to at least 100,000 per cubic millimeter after splenectomy, with the mean increasing from 19,900 per cubic millimeter preoperatively to 262,700 per cubic millimeter after splenectomy. In addition, platelet size, which is characteristically small in this disease, also became normal. Survival after splenectomy correlated with the prophylactic use of antibiotics. Five of seven patients not taking prophylactic antibiotics died of sepis within 33 months of surgery. The mean survival of the nine patients maintained with prophylactic antibiotics, however, was at least 91.4 months, with six of these patients still alive an average of 11.0 years or more after splenectomy. Thus, splenectomy is a useful therapy for a major cause of morbidity and mortality in this complex syndrome.
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PMID:Splenectomy in the management of the thrombocytopenia of the Wiskott-Aldrich syndrome. 676 87

We present the immunological studies on 2 patients, one with the Wiskott-Aldrich syndrome and another with common variable hypogammaglobulinemia. Although these patients represent two different immunodeficiency defects, both had a subpopulation of peripheral lymphocytes which had simultaneously T and B characteristics. Their peripheral blood mononuclear cells had a low responsiveness to polyclonal mitogens. We suggest that these unusual cells represent a subpopulation of suppressor cells or of immature T cells, which may have an essential role in the pathogenesis of these immunodeficiencies.
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PMID:A subpopulation of lymphocytes with T and B cell characteristics. Observations on two different cases of immunodeficiency. 676 18

A histologic review was undertaken of 35 lymphoreticular disorders that developed in primary immuno-deficiency patients from the Immunodeficiency Cancer Registry. Twenty-one (60%) of the lesions were non-Hodgkin's lymphomas: these included eight B-immunoblastic sarcomas. Eight (23%) of the lesions were Hodgkin's disease, with a high frequency of lymphocytic depletion type in an unusually young age group. Three lesions (8.5%) represented abnormal proliferative processes, which could not be definitely categorized as either benign or malignant. There were only two acute lymphoblastic leukemias (6%). Differences were found between lymphomas arising in Wiskott-Aldrich syndrome and those occurring in ataxia-telangiectasia; this suggests that different pathogenetic mechanisms might operate in their development. The lymphomas in Wiskott-Aldrich syndrome were all of non-Hodgkin's type, predominantly B-immunoblastic sarcomas, and presented as localized extranodal infiltrates. The lymphomas in ataxia-telangiectasia were either Hodgkin's disease, mostly of lymphocytic depletion type, or non-Hodgkin's lymphomas of the histologic subtypes associated with 14q translocations.
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PMID:Lymphoreticular disorders in primary immunodeficiencies: new findings based on an up-to-date histologic classification of 35 cases. 696 49

The X-linked immunodeficiency Wiskott-Aldrich syndrome (WAS) is a condition that includes a deficient anti-polysaccharide Ab response. Recently, it has been suggested that B cells from patients with WAS show a defective calcium mobilization response upon engagement of sIgM. Because primarily EBV-transformed cells were used in these studies, we tested freshly isolated blood B cells for their calcium mobilization capability upon engagement of sIg and CD19. No significant differences in the calcium mobilization capability of CD20+ B cells of four individual WAS patients compared with capability in normal controls were found. Receptor desensitization as assessed by calcium mobilization inhibition also seemed to be intact. T cells were tested for their anti-CD3-induced calcium flux and, again, no abnormalities could be observed when compared with T cells from healthy individuals. We conclude that WAS B and T cells can be stimulated into a normal calcium mobilization response when their AgRs are cross-linked. It is highly improbable that the immune dysfunction observed in WAS patients is related to a direct disorder of their B and/or T cell AgRs.
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PMID:Antigen receptor-mediated transmembrane signaling in Wiskott-Aldrich syndrome. 751 27


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