Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:Q00604 (X-linked)
 16,883 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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

To explain the epidemiology of Kaposi's sarcoma, including its predominance in men, I present a theory based on three concurrent factors: immunodeficiency, exposure to a specific viral agent, and a recessive, highly prevalent X-linked regulatory gene. The X-linked locus is inferred from comparing the aberrant lymphaticovenous nature of immature lesions with absence of lymphaticovenous connections in XO karyotypes. The theory predicts that for heterosexual populations without sex differences in viral exposure or degree of immunodeficiency, the male-to-female ratio of Kaposi's sarcoma will equal the inverse of the lesion's frequency causative virus. In addition, an increased incidence of Kaposi's sarcoma is expected outside of the context of the acquired immunodeficiency syndrome as the causative virus is transmitted separately from the human immunodeficiency virus.
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PMID:Kaposi's sarcoma: a trifactorial model. 364 26

One of the most extensively studied X-linked immunodeficiency disorder is the xid mutation of the mouse strain CBA/N. This mutation may involve a maturational defect as xid animals are unable to raise antibodies to soluble polysaccharide antigens, a function normally attributed to late-stage B cells. Moreover, studies using monoclonal antibodies have defined a B-cell surface antigen (BLA-2 or 14G8) that is expressed on most or all immature B lymphocytes, but not on a subpopulation of mature splenic B lymphocytes; this late-stage, 14G8 antigen-negative splenic B-cell subpopulation is apparently absent from mice bearing the xid defect. In the accompanying paper we describe the isolation of a cDNA clone recognizing a family of genes on the X chromosome, at least some of whose members are closely linked to the xid trait. We report here that this gene family, XLR, is transcribed in certain B- and T-cell lineage tumours, but not in macrophage tumours, or liver or kidney cells. We show that it is transcribed principally in late-stage, 14G8-negative B-cell tumours and plasmacytomas, but not in immature B-cell or pre-B-cell tumours. We are able to detect transcription in all of 12 plasmacytomas (secretory B-cell tumours) derived from mice with normal X chromosomes, but not in three plasmacytomas carrying the xid mutation. These data, combined with the restriction fragment length polymorphism analysis linking the XLR gene family to the xid mutation, suggests that the xid defect occurs within a member of this gene family.
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PMID:Expression of an X-linked gene family (XLR) in late-stage B cells and its alteration by the xid mutation. 387 16

In a survey of 301 normocomplementemic inbred mice (belonging to nine different strains: BALB/cN nu/nu and nu/+, CBA/N, C57BL/KsJ, C57BR/cdJ, CBA/CaJ, BRVR, DW/+, and C57BL/6J) for natural resistance to Cryptococcus neoformans, cumulative survival values were found to range from 12 to 22 days. When the average organ weights of infected animals were compared with reference values obtained in uninfected mice of the same age and genetic lineage, the following changes were documented. In the CBA/N strain, the mean spleen and brain weights increased 313 and 13.5%, respectively, whereas the mean liver weight remained unchanged. In the CBA/Ca strain, cerebral cryptococcosis was the dominant clinical feature, and a 54% increase in mean brain weight was recorded at the time of death. The averaged liver weight was drastically lower, whereas spleen weight values evinced a biphasic pattern of transient splenomegaly followed by involution. At the median time of death, CBA/N mice had significantly more cryptococci in the liver and spleen than corresponding CBA/Ca mice. In the (CBA/N X CBA/Ca)F1 mice, susceptibility to C. neoformans segregated according to the sex-linked inheritance of the X-linked immunodeficiency (xid) gene. It is concluded that (i) susceptibility to cryptococcosis is under multigenic control, (ii) the xid locus on the X chromosome influences susceptibility to cryptococcosis, and (iii) xid mice behave differently than CBA/Ca mice in their organ response during the course of the infection.
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PMID:Genetic resistance to murine cryptococcosis: increased susceptibility in the CBA/N XID mutant strain of mice. 388 Jul 24

The review will examine B-cell differentiation with an emphasis on B-cell subpopulations. We will begin with an analysis of current evidence concerning B-cell ontogeny. The development of the B-cell repertoire will be traced from stem cell to effector cells. The CBA/N mouse, which expresses an X-linked immunodeficiency, will serve as a basis for discussing the delineation of B cells into subpopulations. The CBA/N mouse provides evidence for distinct populations of B cells which can be differentiated by cell surface antigens as well as function. We intend to focus on the functional diversity of B-cell subpopulations and how they develop. The CBA/N mouse is not the only evidence for distinct B cell subpopulations and we will attempt to organize these data into a coherent story of B-cell subsets.
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PMID:B-cell subsets: functional and structural characteristics. 389 12

The group of patients consisted of 4 pairs of male siblings with the family history suggesting X-linked immunodeficiency. The concentration of serum immunoglobulins (Ig) and the titer of anti-E. coli and anti-Candida albicans antibodies was extremely low in comparison to the control group. Only 2 siblings showed normal number of lymphocytes with surface Ig. Four out of 8 children had the increased number of Fc-IgG bearing T cells. Blast transformation of lymphocytes revealed the decreased response to PHA and Con A in 2 children. Cellular immunoglobulin (cIg) synthesis of in vitro stimulated peripheral blood lymphocytes (PBL) was decreased in all 8 children. Prednisolone, when added to the PBL cultures, increased cIg synthesis in 2 children. Thymosin (TFX) caused an enhancement of cIg production by lymphocytes of 4 children. Cowan I--elicited stimulation of PBL was low in all but 2 children. Our data further support the view on the heterogeneity of etiopathogenesis of hypogammaglobulinemia.
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PMID:Immunoglobulin synthesis by lymphocytes of eight immuno-deficient children. 390 93

Graft-versus-host disease (GVH) was used to induce an autoimmune state in F1 recipients using donor spleen cells, splenic T cells, or Lyt 1+2- splenic T cells from either normal DBA/2 mice or from DBA/2 mice carrying the X-linked immunodeficiency (xid) gene. Recipients were either nondefective (DBA/2 X CBA/N)F1 males or reciprocal cross (CBA/N X DBA/2)F1 male mice carrying the xid gene. GVH induced hypergammaglobulinemia and anti-ssDNA autoantibodies in F1 recipients. Immunodeficient (CBA/N X DBA/2)F1 recipients had less hypergammaglobulinemia and IgG anti-ssDNA than did normal (DBA/2 X CBA/N)F1 recipients. Spleen cells, splenic T cells, and Lyt 1+2- splenic T cells from immunodeficient DBA/2.xid donors were less able to induce GVH and autoimmunity than normal DBA/2 donors. These studies suggest that the xid gene may reduce the autoimmune hyperractive state, but may do so by acting on more than one cell population, including T cells.
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PMID:Effect of the xid gene on graft-versus-host-induced autoantibody production in nonautoimmune mice. 392 60

Lymphocytes from patients with Wiskott-Aldrich syndrome (WAS) were studied with prometaphase G banding to search for minor chromosome anomalies and in mutagen stress assays to assess the extent of chromosome breakage under these conditions. One patient, a sporadic case of WAS, was found to have a stable inversion of a large segment of one chromosome 6 that involved the region encoding the major histocompatibility complex (MHC). The anomaly was not present in the patient's parents, nor in three other unrelated patients with WAS, all of whom demonstrated X-linked inheritance (based on family history). None of the four patients showed an excessive number of breaks or radial exchange figures following exposure to mitomycin C or diepoxybutane. Thus chromosome fragility in WAS was not confirmed by these studies. However, the incidental finding of 6p inversion in a sporadic case of WAS suggests that genetic rearrangement involving the MHC can result in clinical immunodeficiency mimicking WAS.
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PMID:Cytogenetic studies in Wiskott-Aldrich syndrome: identification of a case with a 6p chromosome abnormality. 395 75

A higher incidence of malignancy as well as greater susceptibility to infection has been found to be associated with primary immunodeficiencies. An increased incidence of leukemia has been associated with X-linked infantile agammaglobulinemia-an isolated defect of humoral immunities. An increased frequency of a wide variety of malignancies have been found to accompany several different forms of primary immunodeficiency. Secondary immunodeficiencies produced by immunosuppressant therapy to facilitate renal transplantation have also been found to have far too much cancer to be explained by chance assocaition. Many experimental associations between immunity and malignancy have also been encountered, indicating that these two adaptive processes have an essential relationship that must be elucidated.
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PMID:Relations between immunity and malignancy. 455 79

The therapeutical use of gammaglobulin preparations in inborn immunodeficiency syndromes should be performed critically and only if an immunoglobulin lack exists which can be substituted. Immunodeficiency defects are listed according to the WHO-classification. For substitution of immunoglobulins plasma or different gammaglobulin preparations may be applied. The preparation of intravenous applicable preparations by different methods results in changes of half live times. The most important humoral immunodeficiency syndromes are the transitory hypogammaglobulinemia of infancy, the pathological hypogammaglobulinemia with delayed maturation of immunoglobulin-synthesis, the infantile X-linked agammaglobulinemia (Morbus Bruton) and the X-linked immunoglobulin deficiency syndrome with hyper-IgM. Intravenously applicable gammaglobulin preparations are preferred in the therapy the last two mentioned antibody deficiency syndromes which require large volumes. It has been demonstrated recently that these preparations are also suitable for continuous substitution.
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PMID:[Therapeutical application of gammaglobulin preparations in inborn immunodeficiency syndromes (author's transl)]. 617 May 72


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