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Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Fourteen patients with T-cell-derived leukemia and lymphoma underwent high-dose chemoradiotherapy and anti-T-cell monoclonal antibody-treated autologous bone marrow transplantation (ABMT). All patients were either in sensitive relapse or had adverse prognostic features, and five patients had a history of bone marrow involvement with disease. Patients received a median of 2 (1 to 3) prior chemotherapy regimens; 10 patients received local radiotherapy. After high-dose ablative therapy, greater than 500/mm3 granulocytes and greater than 20,000 untransfused platelets/mm3 were noted at a median of 23 (13 to 48) and 26 (15 to 43) days post-ABMT, respectively. Natural killer (NK) cells, T cells (predominantly T8+), and monocytes were noted within the first 1 to 2 months post-AMBT, as seen in other series. Disease-free survival was a median of 10.1 months, 5.9 months for patients with T acute lymphoblastic leukemia or lymphoblastic lymphoma and 25.6 months for patients with T non-Hodgkin's lymphoma (NHL). Toxicities were common and severe. Thirty-six percent of patients developed bacteremias early post-BMT. Late complications included a skin rash consistent with graft versus host disease; infections with Herpes zoster, hepatitis, and Pneumocystis carinii; and the development of Epstein-Barr virus associated lymphoproliferative syndrome. Our findings suggest that patients who have undergone T-depleted ABMT have a profound immunodeficiency not reflected in the phenotypic reconstitution of the T and NK cells. Characterization of the functional deficiency may facilitate the development of methods to reduce the long-term toxicity of AMBT in these patients.
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PMID:T-cell-depleted autologous bone marrow transplantation therapy: analysis of immune deficiency and late complications. 219 91

Information regarding the development of diverse diseases associated with EBV virus in immune deficient patients has been gained by studying males with XLP, and their families. Multiple immune defenses normally protect against the ubiquitous EBV. Depending on the type and degree of inherited or acquired immunodeficiency, EBV may more or less be capable of inducing a variety of diseases. Multiple methods may be needed to document EBV in the immune deficient individual. Rational approaches to prevention and intervention in EBV-induced diseases in immune compromised individuals are being developed.
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PMID:Epstein-Barr virus-induced diseases in the X-linked lymphoproliferative syndrome and related disorders. 299 May 90

A rhesus monkey with a naturally acquired STLV-III infection developed immunosuppression and a lymphoproliferative syndrome characterized by progressive lymphadenopathy and widespread visceral mononuclear cell infiltration. On microscopic examination, diffuse sheets of plasmacytoid lymphoblasts obliterated the sinuses and follicles of the nodes, replaced normal cellular elements of the spleen, bone marrow, and thymus, and infiltrated the lung, liver, kidney, salivary gland, pancreas, thyroid, stomach, and tongue. Immunohistologic studies indicated that the predominant cell in these infiltrates was a B lymphocyte, of oligo- or polyclonal origin. Similar but less extreme lymphoproliferative abnormalities were seen at necropsy in a substantial number of other animals with naturally occurring macaque immunodeficiency syndrome. The present case represents the first prospectively studied monkey with a naturally acquired simian T lymphotropic virus type III infection and illustrates an important manifestation of disease associated with such an infection.
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PMID:Lymphoproliferative syndrome in an immunodeficient rhesus monkey naturally infected with an HTLV-III-like virus (STLV-III). 301 14

A 6-year-old boy suffered from a severe lymphadenopathy, characterized histologically by a fulminant polyclonal immunoblast proliferation simulating malignant lymphoma with many immunoblasts resembling Reed-Sternberg cells. He had no history of infectious mononucleosis but Epstein-Barr virus (EBV) infection was evident from serological findings, and EBV-associated nuclear antigen (EBNA) was demonstrated in a high percentage of lymphocytes of blood and lymph nodes. An adequate humoral response to EBV ruled out the possibility of an X-linked recessive lymphoproliferative syndrome as the underlying cause of chronic EBV infection. A chromosomal defect in a subpopulation of lymphocytes was induced by interferon and might somehow be associated with a subtle immunodeficiency of our patient. After exacerbation of the disease chemotherapy was included in the treatment but the patient died 9 months after the onset of the disease. At autopsy the lymphoblastic cell proliferation had changed from that of immunoblasts to cells resembling the Burkitt's lymphoma cells. A change of the proliferating cell type was supported by means of cytochemical and immunological cell markers. The presence of EBV in these cells was demonstrated with the EBNA technique. It is concluded that our case may well support the hypothesis, that EBV may induce lymphoma-like polyclonal immunoblast proliferation in immunodeficient individuals, and that occasionally a monoclonal proliferation of the Burkitt's lymphoma type may supervene.
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PMID:Histological and immunopathological studies in a case of chronic Epstein-Barr virus infection terminating in a Burkitt-like lymphoma. 625 16

The human immune system has evolved multiple cellular and humoral defense mechanisms against the lymphotropic virus, EBV. NK cells, suppressor T-cells, cytotoxic K-cells, memory T-cells, and humoral immune responses usually subdue the virus into latency. Individuals with immune deficiency are at great risk of developing immunoregulatory disturbances and lymphoproliferative diseases when confronted by EBV. The infection of B-cells by EBV provokes a marked activation of immunoregulatory T-cells and requires restoration of immune homeostasis during convalescence. This is accomplished with difficulty in an individual with significant immune defects. The X-linked lymphoproliferative syndrome is an exemplary model for studying EBV in immune deficient individuals. Boys with XLP can develop acquired agammaglobulinemia, aplastic anemia, chronic or fatal IM, and a variety of B-cell malignant lymphomas following infection by the virus. We have identified multiple immune defects in the patients and progressive immunoregulatory disturbances following infection by the virus. Other patients with immune deficiency syndromes, i.e., ataxia telangiectasia or the renal transplant recipient, are also at increased risk for developing EBV-induced lymphoproliferative diseases. Moreover, certain families are at increased risk for EBV-associated malignancies, especially those with a triad of manifestations (i.e., autoimmunity, immunodeficiency, and lymphoma). Chromosomal breakage as seen in patients with ataxia telangiectasia may predispose to leukemogenesis. Immunoregulatory defects are also probably predisposing factors to lymphomagenesis. Both inherited and acquired defects can render persons vulnerable to leukemia and lymphoma.
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PMID:Immunodeficiency as a factor in lymphomagenesis. 633 Jun 65

A strong association was found to exist between patterns of lymphoid malignancies and socioeconomic status. B-cell lymphomas and T-acute lymphoblastic leukemia are much more prevalent in developing countries where the chances of acquiring infections especially at a younger age are high. B-cell precursor acute lymphatic leukemia, however, are much more prevalent in the Western world. Many infectious agents are associated with lymphatic malignancies. Epstein-Barr virus is involved in African Burkitt's lymphoma, human immunodeficiency virus-related Burkitt's lymphoma, lymphoproliferative syndrome post-transplantation, and Hodgkin's disease. Other infectious agents which may play a role in lymphoproliferative disorders are human immunodeficiency virus in acquired immune deficiency syndrome-associated lymphoma, human T-lymphotropic virus in adult T-cell lymphoma, Helicobacter pylori in mucosa-associated lymphoid tissue lymphoma, theileriosis in lymphoproliferative syndrome in cattle, Avian leukosis virus in chicken bursal lymphoma, and possibly a bacterial infection in immunoproliferative small intestine disease, potentially reversed by antibiotic therapy. The association between infectious agents and hematologic malignancies may be explained by the creation of large populations of activated cells followed by higher occurrences of 'genetic accidents'. This theory may be reinforced in at least some malignancies with the existence of viral proteins which either have complex relationships with key cellular gene products like p53 and Rb which have roles in cell cycle control, or share common motifs with bc1-2, therefore operating as anti-apoptotic elements. Whenever these genes are deranged, cell deoxysibonucleic acid repair or apoptosis are no longer possible, thereby creating a state of genome instability, increased acquisition of mistakes, and increased chances for malignant transformation.
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PMID:Infectious agents and environmental factors in lymphoid malignancies. 881 40

X-linked lymphoproliferative syndrome is an inherited immunodeficiency for which the responsible gene is currently unknown. Several megabase-sized deleted regions mapping to Xq25 have been identified in XLP patients, and more recently a 130-kb deletion has been reported (Lamartine et al., 1996; Lanyi et al., 1996). To establish a physical map of this deleted region and to identify the XLP gene, two cosmid contigs were established (Lamartine et al., 1996). However, the physical map of this region is still uncompleted and controversial and three points remain unsolved: (1) the centromeric-telomeric orientation of the whole region, (2) the relative orientation of the two contigs, and (3) the size of the gap between the two contigs. To provide a definitive answer to these questions, high-resolution mapping by fluorescence in situ hybridization on combed DNA and molecular approaches were combined to establish the physical map of the XLP region over 600 kb. Our results identified a gap of 150 kb between the two contigs, established the relative orientation of one contig to the other, and determine the centromeric-telomeric orientation of the whole region. Our results show that the order of the marker over this region is: cen.1D10T7-DF83-DXS982.tel.
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PMID:High-resolution mapping of the X-linked lymphoproliferative syndrome region by FISH on combed DNA. 973 Jun 14

X-linked lymphoproliferative syndrome (XLP) is an inherited immunodeficiency characterized by increased susceptibility to Epstein-Barr virus (EBV). In affected males, primary EBV infection leads to the uncontrolled proliferation of virus-containing B cells and reactive cytotoxic T cells, often culminating in the development of high-grade lymphoma. The XLP gene has been mapped to chromosome band Xq25 through linkage analysis and the discovery of patients harboring large constitutional genomic deletions. We describe here the presence of small deletions and intragenic mutations that specifically disrupt a gene named DSHP in 6 of 10 unrelated patients with XLP. This gene encodes a predicted protein of 128 amino acids composing a single SH2 domain with extensive homology to the SH2 domain of SHIP, an inositol polyphosphate 5-phosphatase that functions as a negative regulator of lymphocyte activation. DSHP is expressed in transformed T cell lines and is induced following in vitro activation of peripheral blood T lymphocytes. Expression of DSHP is restricted in vivo to lymphoid tissues, and RNA in situ hybridization demonstrates DSHP expression in activated T and B cell regions of reactive lymph nodes and in both T and B cell neoplasms. These observations confirm the identity of DSHP as the gene responsible for XLP, and suggest a role in the regulation of lymphocyte activation and proliferation. Induction of DSHP may sustain the immune response by interfering with SHIP-mediated inhibition of lymphocyte activation, while its inactivation in XLP patients results in a selective immunodeficiency to EBV.
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PMID:Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome. 981 75

Chediak-Higashi syndrome (CHS) is a hereditary, biphasic immunodeficiency syndrome which usually leads to early death, during the first decade. The second phase is characterized by a lymphoproliferative syndrome with histiocytic infiltrations in various tissues. Recently the gene has been identified on chromosome 1q43. In the patient presented here, a mutation within codon 3197 was found, resulting in a frame-shift. Additionally, Duchenne muscular dystrophy (DMD) was diagnosed by immunostaining of the muscle. Unusual for both CHS and DMD muscle weakness and hypotonia became evident during the first months of life. Compared to typical DMD cases we found an increased histiocytic infiltration in the muscle. The underlying muscular dystrophy probably predisposes to the affection of muscle in the second phase of CHS. This patient is presented as an example of modification of the phenotype by a second genetic disease.
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PMID:Dystrophinopathy in a boy with Chediak-Higashi syndrome. 982 79

Bronchiectasis may occur with various congenital and acquired immunodeficiency diseases. The association of bronchiectasis and the X-linked lymphoproliferative disease (XLP), also known as Duncan's disease is unknown. We describe the case of a 39-year-old man with XLP, the oldest surviving, who developed chronic bronchiectasis with hemoptysis and required a pneumonectomy to control his symptoms.
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PMID:Immune-deficient bronchiectasis associated with X-linked lymphoproliferative disease. 1047 41


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