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

Marrow grafting, once undertaken only after failure of all other forms of therapy, is now the preferred therapy for some malignant diseases. Chemoradiotherapy and marrow grafting for patients with acute leukemia who have failed chemotherapy results in cure rates of 10%-30%. For patients under the age of 50 with acute nonlymphoblastic leukemia transplanted in first remission, the cure rate is approximately 50% with better results in younger patients. Marrow grafting is now being explored in a variety of types of malignant diseases having in common a steep dose-response curve to therapy, therapy limited by marrow toxicity, and the availability of a suitable marrow donor. Current research in the field of marrow transplantation is reviewed and provides a basis for a reasonable expectation that results of marrow transplantation will continue to improve. The use of partially matched family members or phenotypically histocompatibility leukocyte antigen-identical unrelated donors will make marrow grafting available to a larger fraction of patients. Marrow grafting, developed for the treatment of malignant disease, has found an important application to nonmalignant diseases, including immunodeficiency syndromes, aplastic anemia, and thalassemia and other genetic disorders of hematopoiesis.
 ...
PMID:Karnofsky Memorial Lecture. Marrow transplantation for malignant diseases. 636 43

Patient survival after BMT is directly correlated with the HLA-type of the donor. The survival rate after BMT from an HLA-genotypically identical sibling is 56% in acute leukemia, 55% in combined severe immunodeficiency disease (SCID) and 67/83% in severe aplastic anemia patients. The usage of only HLA-D identical related or unrelated donors in SCID revealed a 37% survival, compared to 18% survival in acute leukemia and 11% in severe aplastic anemia using HLA-phenotypical identical or HLA-D identical related donors. BMT from HLA-phenotypical and MLC identical unrelated donors resulted in death of the grafted patients. Non of the patients grafted with HLA-different marrow survived BMT. Survival of BMT patients depended beside the histocompatibility matching on the clinical treatment and the clinical constellation of the patient: The survival rate decreased in aplastic anemia patients due to sensibilisation caused by pre-BMT blood transfusion and was significantly higher in leukemia when BMT was performed in remission.
 ...
PMID:[HLA and bone marrow transplantation (BMT) (author's transl)]. 702 87

Genetic factors suspected in the etiology of human hemopoietic neoplasia, such as leukemia, lymphoma and multiple myeloma, are reviewed. High incidence of consanguineous marriage was found in parents of familial leukemia in siblings. It was also noted that the age of patients with familial leukemia in children of consanguineous parents was younger than that of cases whose parents were not related. These findings suggest that genetic factors may play an important role in the etiology of familial leukemia in siblings. According to the frequencies of familial aggregations in close relatives, the genetic relationships were supposed to be important in chronic lymphocytic leukemia and acute leukemia, but not in chronic granulocytic leukemia. Increased prevalence of autoimmune diseases in relatives of leukemic patients suggests a possibility of genetic immunodeficiency as a common etiologic factor in both diseases. Immunodeficiency was found in unaffected relatives of patients with familial leukemia and lymphoma. Genetic factors were also suggested by the familial occurrences of multiple myeloma and primary macroglobulinemia, and the incidence of benign monoclonal gammopathy in relatives of patients with these diseases. HLA studies revealed the increased frequencies of A2 in acute lymphocytic leukemia, of B5 and B18 in Hodgkin's disease, and of A5 and B18 in multiple myeloma. From such relationships existing between familial immunodeficiencies and hemopoietic neoplasia, genes regulating the immune responsiveness might be involved in susceptibility to these diseases.
 ...
PMID:[Genetics and hemopoietic neoplasia]. 718 26

The study performed in Omsk has ascertained that incidence rates of cancer among Omsk hemoblastosis patients are 8.2 times higher than those in normal population (62 cases per 2961 patients versus 25.46 cases per 10,000 normals). Most frequently, cancer develops in lymphoproliferative diseases. Acute leukemia and chronic myeloid leukemia, for the most part, arise in females with genital and breast cancer, exposed to radiotherapy. In chronic lymphoid leukemia cancer appears in established hemoblastosis. The combination of tumors with hemoblastosis is recorded with similar frequency at the age over 39, in males and females. Combination of tumors with chronic lymphoid leukemia is attributed to immunodeficiency, typical for patients with lymphoproliferative diseases.
 ...
PMID:[Hemoblastosis and cancer]. 761 48

Fusarium is an ubiquitous fungus commonly found in soil and on plants. Human infection usually occurs as a result of inoculation of the organism through the body surface, thus causing skin infection, onychomycosis, keratitis, endophthalmitis and arthritis. Dissemination may occur in subjects with underlying immunodeficiency. Among immunocompromised hosts, Fusarium sp. is an emerging pathogen in neutropenic patients. To our knowledge, since 1973, when the first disseminated fusariosis in a child with acute leukemia was reported, about 80 new cases have been reported, mainly occurring in patients with haematologic malignancies. Specific portals of entry are not well understood, nevertheless the respiratory tract, colonised gastrointestinal tract, onychomycosis, disrupted skin barrier and central venous catheter have been reported as entry sites of deep seated Fusarium infections. Fever, positive blood cultures, severe myalgias, disseminated ecthyma gangrenosum-like skin lesions, ocular symptoms and multiple-organ-system involvement are distinctive features in most cases of disseminated fusariosis. The prognosis is very poor with death generally following despite antifungal therapy, unless an increase in the white blood cell count occurs. All available antifungal drugs show a low activity against the various species of Fusarium. Nevertheless, amphotericin B seems to have the highest in vitro activity and, even if it does not appear to be effective in persistently neutropenic patients, it should be currently considered to be the treatment of choice.
 ...
PMID:Clinical patterns of Fusarium infections in immunocompromised patients. 807 92

This study reports an unusual case of acute leukemia which was diagnosed as hemophilia A on initial admission for leukemia. A 3 year old boy was admitted to Kagoshima University Hospital with anemia. He was diagnosed as acute lymphoblastic leukemia. At the same time he was revealed to have severe hemophilia A- without any previous episodes of severe bleeding tendency or family history of this disease. The laboratory investigation showed his mother to be a carrier of hemophilia A. Although there are many cases of hemophilia which have developed malignant tumors, most of them were caused by association with human immunodeficiency virus (HIV) infection. Only five cases with coexistence of leukemia and hemophilia without HIV infection have been reported and the present case is the first one in Japan. At this stage, hemophiliacs are not necessarily regarded to be a population at risk for the development of leukemia. Furthermore, no particular subtype of leukemia was characterized among these patients in the literature.
 ...
PMID:Acute childhood leukemia in a patient with hemophilia: first report in Japan. 816 18

Only transient engraftment of infused fetal liver cells has been demonstrated in a small proportion of patients with hypoplastic bone marrow or patients undergoing treatment for acute leukemia. This presumably reflects the ability of the recipient to reject the infused cells, the infusion of too few viable stem cells or the availability of too few accessory cells; it is clear from the successful engraftment of infused fetal liver cells in a high proportion of infants and fetuses with severe immunodeficiency diseases that, under favorable circumstances, cells derived from human fetal liver are capable of establishing effective grafts and making a substantial contribution to hematopoiesis comparable to that of transplanted cells derived from the liver of the fetal mouse, rat, rabbit or dog. Significant clinical and hematological improvements have been described following infusions of fetal liver cells without evidence of engraftment. These improvements have been attributed to the ability of the infused cells to promote regeneration of autologous hematopoiesis and to inhibit the growth of tumor cells. These possibilities are worthy of evaluation in relation to the production of putative regulators of cellular proliferation in the liver. Meanwhile a suppressor of tumor growth is being used to purge bone marrow prior to autologous transplantation. The generation in vitro of cells which possess the properties of hematopoietic stem cells generated in the liver--from cells which can be maintained as permanent cell lines--would transform hematopoietic cell replacement therapy, and the possibility may not be too unrealistic to contemplate.
 ...
PMID:The infusion of human fetal liver cells. 831 22

Two young patients with subacute measles encephalitis are described: a 20-year-old male hemophiliac infected with human immunodeficiency virus (HIV) and a 4-year-old girl with acute leukemia. Both patients were afebrile and had persistent focal seizures and slurred speech beginning 2 and 7 months, respectively, after the onset of uncomplicated acute measles. The diagnosis of subacute measles encephalitis was established by demonstration of paramyxovirus nucleocapsid on electron microscopy of brain tissue in one case and by detection of measles virus genome with the polymerase chain reaction in both. Treatment of the HIV-infected man with intravenous ribavirin was begun when the patient lost consciousness after several weeks of seizures; he died. The girl with leukemia was treated early after the onset of symptoms and recovered after a 15-week course. Review of 31 previously published cases revealed a typical clinical presentation. Cerebrospinal fluid (CSF) analysis, electroencephalography, measurement of measles antibody in serum and CSF, and computed tomography of the brain were not helpful in the diagnosis of subacute measles encephalitis. In contrast, histologic examination of brain tissue proved useful in establishing the diagnosis. On the basis of our experience and our literature review, we conclude that histologic and polymerase chain reaction studies of brain tissue are required for the early diagnosis of subacute measles encephalitis and that therapy with intravenous ribavirin is effective when administered early.
 ...
PMID:Subacute measles encephalitis in the young immunocompromised host: report of two cases diagnosed by polymerase chain reaction and treated with ribavirin and review of the literature. 832 78

Among risk groups for GB virus C (GBV-C)/HGV infection, patients with haematological diseases are particularly exposed due to the combination of transfusional support and immunodeficiency status. To examine any association between GBV-C/HGV positivity and different malignancy potential of hematological diseases, we investigated two groups of patients, one with clonal stem cell disease with long latency period (myelodysplasia, myeloproliferative disease) and one with malignant haematological diseases (Hodgkin's lymphoma, non-Hodgkin's lymphoma, acute leukemia, multiple myeloma). Virus positivity was compared with the data from cytogenetic analysis at first diagnosis. The frequency of GBV-C/HGV infection in these patients was studied using reverse transcription-polymerase chain reaction (RT-PCR) and E2 antibody assay. Serum GBV-C RNA was found in 29/47 (62%) patients. The prevalence of GBV-C RNA in the group of oncological cases (72%) was significantly higher (P= .02) than in the patients with clonal stem cell diseases (28%). Among the GBV-C negative cases, only 25% had malignant haematological diseases. The data from GBV-C/ HGV tested cases for which cytogenetic analysis was carried out indicated an association of GBV-C/HGV positivity with genomic destabilization in general. Of the cases with numerical and structural aberrations, 64% were GBV-C positive. A correlation could not be confirmed between GBV-C/HGV and liver enzyme levels, blood transfusions, chemotherapy treatment, or viral coinfection. These findings suggest a high risk of GBV-C/HGV infection in patients with haematological disorders especially in the group of malignant diseases. These observations may indicate that the persistence of GBV-C/HGV in these patients could be associated with susceptibility to genomic destabilisation.
 ...
PMID:Association of GB virus C (GBV-C)/hepatitis G virus (HGV) with haematological diseases of different malignant potential. 1008 47

The E2A-HLF fusion gene, generated by t(17;19)(q22;p13) in acute lymphoblastic leukemia (ALL), encodes a chimeric transcription factor in which the trans-activating domains of E2A are fused to the DNA-binding and dimerization domains of hepatic leukemic factor (HLF). To investigate its biological role, we generated transgenic mice expressing E2A-HLF using Ig enhancer and promoter, which direct transgene expression in cells committed to the lymphoid lineage. The transgenic mice exhibited abnormal development in the thymus and spleen and were susceptible to infection. The thymus contained small numbers of thymocytes, and TUNEL staining showed that higher population of thymocytes were undergoing apoptosis. The spleen exhibited a marked reduction in splenic lymphocytes and the flow cytometric analyses and the in vitro colony formation assays showed that the B-cell maturation was blocked at a very early developmental stage. These findings indicated that the expression of E2A-HLF induced T-cell apoptosis and B-cell maturation arrest in vivo and that the susceptibility of the transgenic mice to infection was due to immunodeficiency. Moreover, several transgenic mice developed acute leukemia, classified as T-ALL based on the surface marker analysis and DNA rearrangements, suggesting that an additional event is required for malignant transformation of lymphoid cells expressing E2A-HLF. Our findings provide insight into the biological function of E2A-HLF in lymphoid development and also its role in leukemogenesis.
 ...
PMID:Expression of E2A-HLF chimeric protein induced T-cell apoptosis, B-cell maturation arrest, and development of acute lymphoblastic leukemia. 1021 71


<< Previous 1 2 3 4 Next >>