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)

Primary B-cell immunodeficiency is relatively frequent and may result in recurrent bacterial infections involving notably the respiratory tract, and in chronic severe enteroviral infections in patients with agammaglobulinaemia. Selective IgG2 isotype deficiency results in pneumococcal, Haemophilus influenzae and pseudomonal infections, since it is associated with defective production of antibodies that are specifically directed against bacterial capsular polysaccharides. Progress has recently been achieved in the determination of genetic and molecular bases of some of these immunodeficiencies. In X-linked agammaglobulinaemia, the abnormal gene has been located on the long arm of the X chromosome (Xq22-23); the intrinsic B-cell abnormality blocks differentiation at the pre-B stage, before the genes coding for light chain immunoglobulins are rearranged. There is now a strong suspicion that IgA deficiency, hypoglobulinaemia with variable expression and some selective IgG isotype deficiencies are three ways of expressing one single abnormality a genetic factor of which is located in the class III region of the HLA complex and perhaps also associated with HLA class II DQ. Treatment of deficient IgG production with intravenous immunoglobulin has thoroughly altered the prognosis of these diseases. Complete IgA deficiency carries a risk of accident by production of anti-IgA antibodies, which means that patients with isolated IgA deficiency should not be treated, that these antibodies should systematically be looked for in patients with IgA deficiency associated with partial deficiency of other immunoglobulins, and that these patients should be treated with IgA-free immunoglobulin preparations.
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PMID:[Primary immune deficiencies of B-lymphocytes]. 204 14

BMT can cure several congenital immunological defects: if in these disease the engrafting is easier, the GVH reactions are more frequent and severe. The possibility to deplete from T lymphocyte the marrow before infusion, has overcame this difficulty. From 1968 183 BMT have been performed in Europe on patients with SCID (70 from HLA-identical donor, 113 from HLA-nonidentical donor). The survival after 2 years is 76% in the first group, and 56% in the second group (100 marrows have been T-depleted with different techniques). Strict isolation procedures before the transplant are very important to achieve good results. The possibility to treat different immunodeficiency With BMT are also discussed.
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PMID:[Bone marrow transplantation in congenital defects of immunity]. 205 52

Severe combined immunodeficiency (SCID) due to deficiency of the purine metabolic enzyme adenosine deaminase (ADA) is a fatal childhood immunodeficiency disease. Immune reconstitution by transplantation with HLA-identical bone marrow is the treatment of choice. For patients not candidates for bone marrow transplantation, we propose to attempt immune reconstitution by using infusions of autologous T lymphocytes expanded in tissue culture and genetically corrected by insertion of a normal ADA gene using retroviral-mediated gene transfer. The vector is LASN, in which the human ADA gene is promoted by the LTR while the NeoR gene is driven by the SV40 early gene promoter. The packaging line is PA317. The protocol is designed to have two parts. In Part 1, autologous gene-corrected T lymphocytes would be infused repeatedly in low numbers in order to build an immune repertoire of T cells and also to obtain information as to how long gene corrected T cells survive in vivo. In Part 2A, the gene-corrected T cells would be selected in G418 and/or 2'deoxyadenosine and reinfused into the patient at monthly intervals for approximately 6 months. The goals would be essentially the same as in Part 1. In Part 2B, the number of gene-corrected T cells would be escalated in half-log increments to the predicted therapeutic level (probably around 1 x 10(9)/kg). 1-3 x 10(9)/kg gene-corrected cells would be infused several times and the patients would be monitored in order to determine if significant clinical improvement has occurred.
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PMID:The ADA human gene therapy clinical protocol. 208 Nov 98

Secondary lymphoproliferative syndromes in immunosuppressed patients have been characterized as polyclonal or monoclonal B-lineage disorders nearly always associated with Epstein-Barr virus (EBV) infection. The authors now report three patients with a distinctly different lymphoproliferative syndrome. Two patients with common acute lymphoblastic leukemia antigen (CALLA) (CD10)-positive acute lymphoblastic leukemia and one patient with acute myelogenous leukemia, respectively, received high-dose chemoradiotherapy followed by marrow transplantation from either an HLA-identical sibling or HLA-mismatched parent. All three patients developed severe graft-versus-host disease (GVHD), requiring immunosuppressive treatment with corticosteroids. A secondary malignant T-cell lymphoproliferation occurred 2, 21, and 43 months, respectively, after marrow transplantation. In all three cases the lymphoid cells expressed T-cell surface antigens and were morphologically and immunophenotypically distinct from the malignant cells present before transplantation. One tumor was of host cell origin, one was probably of donor origin, and the tumor origin in the third case could not be determined. The authors were unable to find any evidence for EBV, human T-cell lymphotropic virus type I or II, human immunodeficiency virus, or human herpesvirus 6.
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PMID:Secondary T-cell lymphoproliferation after marrow transplantation. 217 84

Newer understanding of the development of the immune system and novel methods to repair these defects promise cures for previously fatal diseases. The advances stem from the ability to define the developmental stages and describe the diseases at the gene level. Coordinate with this progress, recombinant DNA technology may soon permit the precise correction of the defect. For the moment, gene replacement is accomplished at the cellular level by bone marrow transplantation. Here too, rapid clinical advances now permit the use of nonsibling donors. The long-term results are equivalent to those obtained in the past when only HLA-matched siblings could donate. There is now a support group that is of inestimable value to the families of those who suffer from immunodeficiency. Thus, there has been both technological and social progress in the area of primary immunodeficiency. The future is clearly brighter each year.
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PMID:Update on the immunodeficiency diseases. 220 68

Although HLA antigens are present on the surface membrane of most cells, erythrocytes express little or no HLA. Occasionally red cells from normal individuals or patients with certain diseases express elevated levels of these molecules. The reasons for such variations are currently not understood. We report here that the expression of very high levels of HLA on erythrocytes occurs in response to interferon alpha given as a therapeutic agent for viral hepatitis. Increased expression became apparent after the second or third week of treatment, peaked at 3-4 months, and decreased at the end of the treatment period. This chronology suggests that elevated HLA expression is originated during erythropoiesis and persists throughout the lifetime of the erythrocyte. Furthermore, erythrocyte HLA expression did not correlate with changes of plasma HLA or beta 2-microglobulin concentrations and was not affected by in vitro chloroquine treatment, ruling out the possibility that HLA was adsorbed from plasma. Increased expression of HLA on erythrocytes was also demonstrated in patients infected with the human immunodeficiency virus, a disease in which increased production of endogenous interferon has been previously documented. We conclude that high HLA expression in red cells occurs in response to persistent interferon stimulation. Further studies will determine if this effect can also be produced by interferon tau or other factors.
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PMID:Induction of erythrocyte HLA expression during interferon treatment and HIV infection. 221 Nov 87

Wiskott-Aldrich Syndrome (WAS) is a sex-linked disease characterized by immunodeficiency and thrombocytopenia. Supportive treatment of this disease is inadequate and bone marrow transplantation has been reported to result in excellent survival. The long-term follow-up of 8 male patients who received bone marrow transplantation for the WAS is reported here. All of these patients received ablative preparative treatment consisting of ATS (antithymocyte serum), cytoxan and either busulfan or TBI (total body irradiation). Bone marrow was transplanted from an HLA-matched donor. Seven of eight of these male patients have had excellent engraftment of their transplant and now have adequate lymphocyte and platelet function. In addition, they have had good growth and development. This suggests that ablative preparative treatment followed by early bone marrow transplantation from an HLA-matched donor is a highly successful therapy for this congenital disease.
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PMID:Bone marrow transplantation for the Wiskott-Aldrich syndrome. Long-term follow-up. 221 85

The presence of peripheral arthritis and HLA-A, B, C, DR, and DQ antigens was evaluated prospectively in 18 Caucasian men with human immunodeficiency virus-associated psoriasis. An asymmetric polyarthritis occurred in 32% of the patients and correlated with the presence of HLA-B27. Extensive clinical overlap between psoriatic arthritis, psoriasis, and Reiter's syndrome was noted. No significant excess of the HLA antigens previously found to be associated with psoriasis was seen, which suggests that human immunodeficiency virus-associated psoriasis per se may instead constitute another form of spondylarthropathy that is more closely related to Reiter's syndrome.
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PMID:Human immunodeficiency virus-associated psoriasis, psoriatic arthritis, and Reiter's syndrome: a disease continuum? 222 38

We developed a quantitative assay for human immunodeficiency virus type 1 (HIV-1) proviral DNA sequences using the polymerase chain reaction (PCR). The relative copy numbers of HIV-1 proviral DNA molecules were determined by coamplification of an HIV-1 gag sequence and a portion of the DQ alpha locus of the histocompatibility (HLA) region. Because of the disparity in the copy number of cellular and HIV-1 templates, an attenuation in the efficiency of the HLA amplification was required to achieve simultaneous amplification and quantitation of both target sequences. The HIV-1 and HLA amplified products were detected by hybridization with radioactively labeled probes and the amount of probe bound to each product was determined with a radioanalytic system. Standard curves were generated by plotting the HIV-1 and HLA signals made against known copies of each target present prior to amplification. The copies of HIV-1 target relative to the number of cells in a given sample were determined by interpolation from standard curves. The procedure described here is generally applicable to the quantitation of other retroviruses.
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PMID:Quantitation of HIV-1 proviral DNA relative to cellular DNA by the polymerase chain reaction. 228 64

Peripheral blood mononuclear cells from human immunodeficiency virus seropositive (HIV+) individuals who did not exhibit symptoms of acquired immunodeficiency syndrome (AIDS) (Walter Reed Stage 1 patients) were tested for accessory cell function for presentation of recall antigens to autologous T lymphocytes and for presentation of HLA alloantigens to T lymphocytes from healthy, HIV- donors. Neither experimental model indicated a defect in accessory cell function at this early stage after HIV infection, although our study does not exclude the possibility of accessory cell dysfunction at a later stage of AIDS development.
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PMID:Accessory cell function in asymptomatic human immunodeficiency virus-infected patients. 229 54


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