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)

HLA-A, -B, -C, -DR, and -DQ antigen phenotypes were determined in 266 Caucasian homosexual men, 90 of whom were HIV-1 seronegative, 94 HIV-1 seropositive AIDS-free, and 82 with a diagnosis of AIDS [36 with Kaposi's sarcoma (KS), 34 with opportunistic infection (OI), and 12 with KS and OI]. No significant differences in HLA-A or -B antigen frequencies were found in any comparisons of these groups. However, in comparisons of seropositive AIDS-free men with the AIDS groups, HLA-Cw7 was increased in frequency in OI and HLA-DR1, -DRw14, and -DQw1 in KS. HLA-DR3 and -DQw3 frequencies were decreased in KS, and DRw53 was decreased in OI. In a cohort of 102 HIV seropositive individuals that were followed for a mean of 43 months, AIDS developed in HLA-DR1 positive men more frequently than in individuals with other HLA-DR phenotypes (p = 0.02). These results demonstrate probable genetic differences between individuals developing KS and OI and indicate that the HLA-DR1 phenotype is a risk factor in disease progression in human immunodeficiency virus (HIV)-infected individuals.
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PMID:HLA antigen frequencies in HIV-1 seropositive disease-free individuals and patients with AIDS. 321 93

The antigenic phenotype of human villous stromal macrophages (M phi s) from first and third trimester placentas was analyzed using a large number of monoclonal antibodies (MAbs) to monocyte (Mo)/M phi-associated cell membrane determinants. The purpose of this study was to investigate M phi phenotypic heterogeneity to create a database for the correlation of M phi phenotype with specific immunologic functions. The results showed that villous stromal mononuclear cells express many cell surface antigens found on Mo and M phi s and that they are morphologically diverse, ranging in appearance from classic Hofbauer cells to spindle-shaped cells with long cytoplasmic processes. Villous stromal M phi s were the numerically dominant cell type in this structure and exhibited some major phenotypic differences from M phi s in other tissues. Comparison of first- and third-trimester placentas revealed variation in antigen expression with increasing gestational age, in particular of class II major histocompatibility complex (MHC) determinants: HLA-DR and HLA-DP antigen density was low on first-trimester villous M phi s and much higher on third-trimester M phi s while HLA-DQ was undetectable in the first trimester but present on cells in third trimester placentas. The CD1 (T6) antigen, found on Langerhans (LH) cells and cortical thymocytes, was detected on villous M phi s by two thirds of the MAbs directed against different epitopes on this determinant. Furthermore, comparison with similar studies of lymphoid tissues showed that villous M phi s and dendritic cells share the expression of a number of other cell surface antigens. Finally, it was shown that M phi s in first- and third-trimester villi exhibit strong reactivity with MAbs (Leu 3a,b) to the CD4 antigen that serves as the receptor for the human immunodeficiency virus (HIV), suggesting that these cells may be a portal of entry or reservoir for this virus in the fetuses of pregnant, HIV+ women.
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PMID:The phenotype of human placental macrophages and its variation with gestational age. 326 59

A major hypothesis to explain the immunodeficiency associated with bone marrow transplantation states that thymic epithelial damage due to graft-versus-host disease (GVHD) abrogates or delays the recovery of normal immunologic function. This study evaluated the thymus glands of 36 human bone marrow transplant recipients dying between 4 and 1742 days after transplant using histology, histochemistry, and immunohistology. The observations lead to a model of thymic damage by irradiation, chemotherapy, and GVHD in which early injury by all three of these agents results in profound thymic atrophy followed by long-delayed restitution. Patients undergoing total body irradiation showed more severe damage to thymic cortical and medullary epithelium than did patients undergoing chemotherapy alone as preparation for transplantation. Patients with GVHD showed additional damage in the form of individual thymic epithelial cell death and showed HLA-DR surface protein expression on thymic epithelium during GVHD. Longer-term survivors showed a profoundly delayed restitution of normal thymic epithelium and delayed evidence of restored lymphopoiesis. A few patients dying late after transplant showed evidence of reconstitution of normal thymic structure or nodules of lymphopoiesis in focal areas of epithelial-cell reconstitution. Evidence of such lymphopoiesis was seen at times ranging between 90 and 1742 days after grafting. The data are consistent with a model of long-standing thymic damage caused by GVHD which is reversible after the development of tolerance.
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PMID:Pathology of the thymus after allogeneic bone marrow transplantation in man. A histologic immunohistochemical study of 36 patients. 331 29

Phenotypic and functional analysis of B lymphocytes in two siblings with combined immunodeficiency associated with defective expression of class I and class II major histocompatibility complex (MHC) antigens on mononuclear cells is described. The results of the analysis of the membrane phenotype of the B cells performed at the age of 1 and 5 years, respectively, by the use of monoclonal antibodies against class I (HLA-A, -B, -C) and class II (HLA-DR, -DP, -DQ) MHC antigens showed a decreased expression of class I antigens and a complete lack of class II antigens. Class I antigen expression consistently remained of the same magnitude during follow-up. Class II antigen expression remarkably had been positive early in life on B cells and activated T cells, whereas monocytes were negative for class II from birth onward. B lymphocytes of both patients responded in vitro to polyclonal activation with Staphylococcus aureus Cowan I staphylococci (SAC) with the production of IgM-type immunoglobulins only. This neonatal type of response was in agreement with the membrane immunoglobulin phenotype of the B cells since a high sIgM/sIgD ratio characteristic of neonatal B cells was present. However, the expression of the FMC7 antigen on B cells of both patients was comparable to that on B cells of normal adults. We hypothesized that the lack of MHC antigen expression may impose a resting state on the lymphocytes in these patients due to ineffective cellular interactions. In this view the high sIgM/sIgD ratio reflects the activation state of the B cells rather than the maturational state of the cells.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Phenotypical and functional analysis of B lymphocytes of two siblings with combined immunodeficiency and defective expression of major histocompatibility complex (MHC) class II antigens on mononuclear cells. 349 42

Serologic and immunologic studies were performed in 38 African and 60 US patients with acquired immunodeficiency syndrome (AIDS), 100 African and 100 US heterosexual men and women, and 100 US homosexual men to examine the potential role of infectious agents in human immunodeficiency virus (HIV) infection. There were no significant differences in the prevalence of antibodies to cytomegalovirus, Epstein-Barr virus, hepatitis A and B viruses, herpes simplex virus, syphilis, and toxoplasmosis among the African and US patients with AIDS, African heterosexual controls, and US homosexual men. However, these four groups all demonstrated a significantly greater prevalence of antibodies to each of these infectious agents compared with US heterosexual men. Immunologic studies demonstrated a significant elevation of activated lymphocytes (HLA-DR and T3 positive) and immune complexes in both AIDS populations and African heterosexual and US homosexual populations, compared with the US heterosexual population. These data demonstrate that the immune systems of African heterosexuals, similar to those of US homosexual men, are in a chronically activated state associated with chronic viral and parasitic antigenic exposure, which may cause them to be particularly susceptible to HIV infection or disease progression.
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PMID:Serologic and immunologic studies in patients with AIDS in North America and Africa. The potential role of infectious agents as cofactors in human immunodeficiency virus infection. 349 57

The mAb L10 was used to determine the distribution and the function of sialophorin, the heavily glycosylated surface molecule that is deficient/defective in lymphocytes of patients with the X-linked immunodeficiency Wiskott-Aldrich syndrome. Dual-parameter FACS analysis indicated that sialophorin is expressed on CD4+ and CD8+ lymphocytes, on a subpopulation of peripheral blood B lymphocytes, on all thymocytes, and on a subpopulation of bone marrow cells. Functional studies demonstrated that L10 mAb stimulates the proliferation of peripheral blood T lymphocytes as measured by stimulation of [3H]thymidine incorporation. The time course and magnitude of increased [3H]thymidine incorporation by T lymphocytes in response to L10 mAb paralleled that induced by anti-CD3 mAb. Effective stimulation was dependent on the presence of monocytes and the Fc portion of L10 mAb. Stimulation of lymphocytes by L10, like stimulation by anti-CD3 mAb, involves increased expression of 4F2, HLA-DR, and IL-2-R. These observations suggest that sialophorin functions in T cell activation.
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PMID:Sialophorin, a surface sialoglycoprotein defective in the Wiskott-Aldrich syndrome, is involved in human T lymphocyte proliferation. 357 1

A case of the bare lymphocyte syndrome without apparent immunodeficiency was observed. The patient had, in addition, ichthyosis vulgaris and sinobronchial disease. A pustular lesion developed at first on the anterior aspect of lower part of the left leg. This lesion gradually increased in size and evolved into giant indurated, irregular adjoining plaques. On biopsy, the histologic findings were similar to necrobiosis lipoidica. No human lymphocyte antigen (HLA) class I antigens were detected on peripheral mononuclear cells; however, HLA-DR antigens were present on B lymphocytes. Immunohistochemical studies disclosed defective expression of class I antigens in the non-lesional skin, but positive expression was demonstrated in the lesional area. HLA-DR antigens were expressed on keratinocytes and on most infiltrating inflammatory cells in the affected skin. It is therefore speculated that class I antigen appearance and mononuclear cell infiltrate each induces the other and that together they play an important role in the formation and enlargement of the skin lesion.
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PMID:Immunohistochemical studies of major histocompatibility antigens in a case of the bare lymphocyte syndrome without immunodeficiency. 368 Jun 79

The CD4 molecule, which is known to play an important role in the susceptibility of T lymphocytes to infection by the human immunodeficiency virus (HIV), is also expressed in small amounts on the surface of monocytes. Since monocytes can also be infected by the virus, we investigated peripheral blood monocytes of patients with the acquired immunodeficiency syndrome (AIDS), AIDS-related complex (ARC), and HIV seropositive and seronegative haemophiliacs without symptoms for the expression of the CD4 molecule and for other functionally important surface molecules such as CD11 (C3bi receptor), transferrin receptor, Fc receptor, and the three major histocompatibility complex (MHC) class II antigens HLA-DP, HLA-DR, and HLA-DQ. With immunofluorescence staining and flow cytometry no difference was found between patients and controls for the expression of the CD4 molecule and for the other antigens as assessed by the percentage of positive staining and the specific fluorescence intensity in a double marker analysis. The percentage of CD4+ monocytes was found to be 59.2 +/- 14.4% for 16 patients with AIDS and 52.9 +/- 12.8% for 12 healthy controls. Similar to our results on phenotype, we found no significant difference with respect to the production of tumour necrosis factor (TNF), in that monocytes of AIDS and ARC patients showed an increase in TNF secretion after stimulation with LPS comparable to controls.
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PMID:Monocyte phenotype and function in patients with the acquired immunodeficiency syndrome (AIDS) and AIDS-related disorders. 368 87

Patients with an autosomal recessive combined immunodeficiency are characterized by an HLA negative phenotype of activated T and B lymphocytes. To determine the molecular basis of this syndrome we have studied the biosynthesis of class I and II antigens and the expression of relevant genes in these patients. The synthesis of the HLA A, B, and C heavy chain is markedly decreased, while beta 2 microglobulin is made in normal amounts. Biosynthesis of HLA-DR alpha-chain and beta-chain is abolished in the lymphocytes of these patients and there is a total absence of mRNA for either alpha-chains or beta-chains of HLA-DR. This indicates that the lack of class II antigen on these lymphocytes results from a block in the expression of HLA-DR genes. The Ii-chain, the invariant polypeptide associated intracellularly with HLA-DR, and its mRNA are made in normal amounts. Since the structural genes coding for class II polypeptides do not seem to be affected, the reported genetic defect in the patients concerns the regulation of the expression of HLA-DR genes.
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PMID:A defect in the regulation of major histocompatibility complex class II gene expression in human HLA-DR negative lymphocytes from patients with combined immunodeficiency syndrome. 386 May 9

Thymic biopsies from two patients with combined immunodeficiency and defective expression of HLA class I and class II antigens on blood mononuclear cells ("bare lymphocyte" syndrome) were investigated. This made possible an evaluation of the significance of HLA antigen expression in a detailed (immuno)histologic study. Both thymuses showed a normal lobular architecture with distinct cortex-medulla areas, well-differentiated epithelium, including ultrastructurally defined subtypes, and Hassall's corpuscles. Normal numbers of lymphoid cells were present and normal T-cell phenotype was found. Using anti-HLA-A,B,C antisera, confluent staining of the medulla (stroma and lymphocytes) was observed. One of the thymuses was found to be negative for HLA class II antigen expression: the other revealed only HLA-DR positivity of nonlymphoid cells in the medulla. These cells were not of epithelial nature as judged from double staining with anti-keratin antibody. There was no expression of HLA-DC/DS. These observations differ from findings in the normal thymus, wherein epithelial cells in the cortex carry HLA class I and class II antigens, and epithelial cells in the medulla express HLA class I, and for a minor part class II antigens. The results indicate a normal sequential acquisition of T-cell differentiation antigens in the thymus of both cases. It is suggested that the expression of HLA class I and class II antigens on epithelial cells in the normal thymus cortex does not play a significant role in the sequential acquisition of differentiation antigens on T lymphocytes.
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PMID:The thymus in "bare lymphocyte" syndrome: significance of expression of major histocompatibility complex antigens on thymic epithelial cells in intrathymic T-cell maturation. 387 94


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