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)

The peripheral blood leukocytes of 6 children with clinical data suggestive of primary cellular immunodeficiencies were studied in an attempt to define the cellular basis of these disorders. The phenotype and function of T and B cells were investigated. According to the clinical and laboratory features, the patients were classified as one case of severe combined immunodeficiency (SCID), two of ataxia-telangiectasia (AT), one of Wiskott-Aldrich syndrome (WAS), one of DiGeorge syndrome (DSG), and one of cellular immunodeficiency (CID). The laboratory investigations together with the clinical manifestations permitted a diagnosis of primary immunodeficiency diseases.
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PMID:Primary immunodeficiency diseases: a presentation of 6 cases. 326 46

Primary lymphoma of the central nervous system (CNS), including reticulum cell sarcoma, microglioma, and histiocytic lymphoma, represents less than 1% of all primary brain tumors. In the last 10 years, this tumor has tripled in frequency in the nonimmunosuppressed population. By 1991, the tumor will be the most common neurological neoplasm by virtue of the increase in sporadic occurrence and in the acquired immunodeficiency syndrome (AIDS) population. Three percent of AIDS patients will develop this tumor either prior to AIDS diagnosis or during their subsequent course. In addition to acquired immunosuppression, patients with inherited disorders (such as Wiskott-Aldrich syndrome, severe combined immunodeficiency, and X-linked immunodeficiency) and other acquired disorders of the immune system are predisposed to the development of CNS lymphoma. Immunological studies have suggested a role for Epstein-Barr virus in the production of this tumor. Although subtypes exist, non-Hodgkin's lymphoma of the CNS most commonly consists of histiocytic cells or large immunoblastic cells bearing B cell surface markers in close proximity to the lateral and third ventricles. Sixty percent of these deposits are multiple, and subarachnoid invasion is seen in one-quarter of patients. Vitreous involvement of the eye occurring prior to and during the course of CNS lymphoma has been noted in up to 25% of patients. The involvement of multiple areas of the neuraxis, the eye, and multiple intracranial sites often occurs in the absence of obvious systemic lymphoma. Therapeutic trials of brain radiation therapy are associated with median survivals of less than 1 year. Uniform complete responses of intracranial deposits are recorded following chemotherapy with high-dose intravenous methotrexate, CHOP (cyclophosphamide, hydroxydaunomycin/doxorubicin, Oncovin (vincristine), and prednisone), high-dose cytosine arabinoside, and intra-arterial methotrexate with barrier modification.
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PMID:Primary central nervous system lymphoma. 328 32

Three primary immunodeficiency conditions are discussed: X-linked agammaglobulinemia, severe combined immunodeficiency, and the X-linked lymphoproliferative syndrome. Each condition is associated with a fascinating history since publication of the original description. To a large extent, the immunologic features of these conditions have been defined. Now, the power of recombinant DNA technology is being employed to dissect the molecular mechanisms central to each disease. This review traces the history of these X-linked conditions. Particular emphasis is focused on the molecular defects thus far exposed. In the end, the knowledge provided by this technology will facilitate genetic counseling, define the nature of the gene defects, provide a logical rationale for therapy, and elucidate the role of the X chromosome in lymphocyte ontogeny.
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PMID:Molecular basis of selected primary immunodeficiency disorders. 331 86

The successful development of fetal tissue transplantation has resulted in therapeutical solutions for patients with a variety of diseases. Fetal liver transplants as well as bone marrow transplants, can completely cure patients with severe combined immunodeficiency disease. These transplants can also be applied to treat other types of immunodeficiency, hemopathies, and inborn errors of metabolism, in association with immunosuppressive therapy. Despite complete HLA incompatibility between transplanted stem cells and host cells, functional activities of donor-derived T-lymphocytes are not restricted. In severe forms of Di George syndrome, immunological reconstitution can be obtained by fetal thymus transplantation. It is expected that, in the near future, pure stem cell transplants and gene transplants will develop and will provide remarkable solutions for the therapy of a large number of diseases.
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PMID:Fetal tissue transplantation, bone marrow transplantation and prospective gene therapy in severe immunodeficiencies and enzyme deficiencies. 332 5

Acquired immunodeficiency syndrome (AIDS) in infants has different clinical and immunological characteristics from adult AIDS because of immunological immaturity of the fetus and newborn when infection is produced. Differential diagnosis with primary immunodeficiency diseases, mainly with severe combined immunodeficiency and hypogammaglobulinemia is often difficult, but clinical, epidemiological and immunological data aid in establishing diagnosis. Repeated bacterial infections and abnormal antibody production are common in such children and gammaglobulin therapy is indicated to prevent them and avoid continuous immunological stimulation that viral replication and disease progression.
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PMID:[Diagnostic clinical and immunologic characteristics of infection by the human immunodeficiency virus in infants]. 335 37

There was considerable heterogeneity of the biochemical, clinical and immunological findings in 12 patients and two fetuses from 16 kindreds affected by severe combined immunodeficiency (SCID) due to a complete deficiency of the enzyme adenosine deaminase (ADA). Despite this heterogeneity a consistent pattern was observed, in which levels of abnormal purine metabolites paralleled the severity of the immunodeficiency. A high level of urinary deoxyadenosine was a universal finding for homozygous ADA deficiency. ATP depletion, in association with raised deoxy-ATP (dATP) levels, was found in the erythrocytes of nine infants with profound cellular and humoral immunodeficiency. There was no erythrocyte ATP depletion in two patients with some residual immunity, who presented later, but adenosine accumulated in their plasma and urine. This finding, together with the presence of some T and normal B-lymphocytes in less severely affected patients, suggests that adenosine is relatively non-toxic. The other results are consistent with the hypothesis that the sequence of deoxyadenosine accumulation, dATP formation and ATP depletion represents the major mechanism of toxicity to the immune system. Low numbers of T lymphocytes and dATP accumulation were also found in the blood of affected fetuses at 18 weeks gestation. Since extreme instability of erythrocyte ADA was demonstrated in some heterozygotes, and heterozygote ADA levels were detected in one infant with SCID, simultaneous immunological and biochemical analysis of fetal blood are important for precise antenatal diagnosis.
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PMID:Heterogeneity of biochemical, clinical and immunological parameters in severe combined immunodeficiency due to adenosine deaminase deficiency. 343 96

Six monoclonal antibodies, designated EqT2, EqT3, EqT6, EqT7, EqT12, and EqT13, which identify T lymphocyte antigens present at different stages of T cell maturation were used to examine T lymphocyte development in foals with severe combined immunodeficiency (SCID). Flow microfluorimetry demonstrated the presence of EqT12+ and EqT13+ prothymocytes and a few phenotypically mature EqT2+ and EqT3+ thymocytes within the thymic remnants of SCID foals. However, very few EqT6+ and EqT7+ resident cortical thymocytes were detected. The near absence of EqT6+ and EqT7+ cortical thymocytes was confirmed by immunofluorescence analysis of thymic tissue from SCID foals. Those cells present were larger than normal cortical thymocytes. Furthermore, their activities of adenosine deaminase, adenosine monophosphate-deaminase, and 5' nucleotidase differed from those of normal cortical thymocytes. The combined evidence of monoclonal antibody analysis, size parameters, and purine enzyme activities demonstrate the near absence of cortical thymocytes in horses with this genetically defined immunodeficiency disorder.
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PMID:Defective thymocyte maturation in horses with severe combined immunodeficiency. 350 Sep 80

The pathogenesis of diabetes in C57BL/KsJ-db/db mice has been proposed to entail autoimmune mechanisms. We have combined immunodeficiency genes with the db mutation to determine whether beta cell necrosis and establishment of severe diabetes would occur in the absence of normal T and/or B lymphocyte functions. Inbred mice carrying the recessive mutations, severe combined immunodeficiency (scid), X-linked immunodeficiency (xid), nude (nu), and the Y-linked autoimmune accelerator (Yaa), were crossed with strains congenic for the db mutation. The diabetes syndrome was studied in double homozygotes produced in the F2 generation. In another experiment, C57BL/KsJ-db/db males were made T cell function deficient by adolescent thymectomy followed by lethal irradiation and bone marrow reconstitution. None of these manipulations served to prevent the induction of a severe diabetes syndrome in any of the model systems analyzed. Thus, diabetogenesis characterized by massive necrosis of the pancreatic beta cells and atrophy of the pancreatic islets was observed in both the absence of normal T cell function (as assessed by absence of T cell mitogen response) and humoral autoimmunity against beta cell antigens (insulin, retroviral p73). In conclusion, our data indicate that anti-beta cell autoimmunity is not a primary event in the etiopathogenesis of diabetes in the db/db mouse.
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PMID:Effect of immunodeficiency on diabetogenesis in genetically diabetic (db/db) mice. 355 24

Natural killer-cell activity for K562 target cells was measured in 13 patients with severe combined immunodeficiency before bone marrow transplantation. Both unseparated peripheral blood mononuclear cells and sorted cell subsets (B73.1 positive, B73.1 negative, OKT3 positive, OKT3 negative) were tested. Heterogeneity of natural killer-cell activity was observed, the level of which did not correlate with the usual subdivision of severe combined immunodeficiency, as defined by a scientific group on immunodeficiency for the WHO. In those patients in whom natural killer-cell activity was observed in unseparated cells, testing of this function in sorted cell subsets revealed some unexpected findings. In three of four patients, B73.1-negative cells showed remarkable natural killer-cell activity. In addition, in one of these patients, no activity was observed in the B73.1-positive cells.
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PMID:Natural killer (NK)-cell activity in sorted subsets of peripheral blood mononuclear cells from patients with severe combined immunodeficiency. 359 14

Patients with primary immunodeficiency disorders were evaluated for three aspects of natural defense: natural killer (NK) cells which lyse HSV-infected fibroblasts [NK(HSV-FS)], NK cells which lyse K562 tumor targets [NK(K562)], and interferon-alpha generation. In addition, capacity to make interferon upon challenge with other commonly used inducers was also evaluated. Most patients with severe combined immunodeficiency disease (SCID) and deficits of both T- and B-cell function demonstrated normal NK function with one or both targets. Six of eight SCID patients generated interferon-alpha at or below the lower limit of normal while only two made clearly normal levels. Six of 10 patients with Wiskott-Aldrich syndrome (WAS) had normal NK(K562) and five of 10 generated normal levels of interferon-alpha but all had severely deficient NK(HSV-FS). Patients with Bruton's agammaglobulinemia demonstrated normal NK and interferon generation, as did patients with common variable immunodeficiency, even when subdivided into patients with T-cell proliferative deficiencies and those with only hypogammaglobulinemia. Natural defense parameters may help categorize patients with SCID and WAS and help define these heterogeneous diseases.
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PMID:Natural killer cell function and interferon generation in patients with primary immunodeficiencies. 369 44


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