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)

X-linked lymphoproliferative disease is characterized by immune deficiency, particularly to the Epstein-Barr virus and by a tendency to develop fatal infectious mononucleosis, acquired hypogammaglobulinaemia or malignant lymphoma. This disorder has been diagnosed in three boys, two brothers and a maternally related cousin, residing in Australia. The proband presented at 6 years of age with fulminating infectious mononucleosis. His 9 year old male cousin had developed an ileal Burkitt lymphoma one year earlier. Immunological and molecular genetic evidence is presented to support our view that his younger sibling is also affected with this condition. DNA linkage studies using probes to DXS10 and DXS37 provide confirmatory evidence for the diagnosis in the proband's brother and information on carrier status in female family members.
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PMID:Report on the X-linked lymphoproliferative disease in an Australian family. 156 73

The X-linked lymphoproliferative syndrome (XLP), also known as Duncan's disease, is an X-linked recessive disorder that is characterized by the inability of affected individuals to mount a sufficient immune response to Epstein-Barr virus (EBV). After EBV primary infection, male family members suffer from severe infectious mononucleosis (IM), aplastic anemia, hypogammaglobulinemia, and a spectrum of lymphoproliferative diseases. Autosomal mode of inheritance with similar symptoms as in XLP has been reported. We have studied two families with EBV-associated syndromes and an X-linked and an autosomal mode of inheritance, respectively. Affected family members presented with severe IM, hemophagocytosis, aplastic anemia, acquired hypogammaglobulinemia, and B-cell lymphoproliferative diseases.
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PMID:Epstein-Barr virus-associated lymphoproliferative syndromes: studies in two European families. 164 73

Patients with X-linked lymphoproliferative (XLP) disease are characterized by extreme vulnerability to Epstein-Barr virus (EBV). Following infection with EBV, affected males develop fatal infectious mononucleosis (IM), hypogammaglobulinemia (H), or non-Hodgkin's lymphoma (NHL). In addition, hyper IgM, red cell aplasia, necrotizing lymphoid vasculitis (NLV), and aplastic anemia occur rarely. The recent use of DNA restriction fragment length polymorphism (RFLP) probes in linkage with the XLP gene now permit detection of affected males prior to primary EBV infection. We have measured immunoglobulin class and subclass levels in sera from EBV-negative males who were either positive or negative for the XLP genotype by RFLP analysis. Elevated IgA or IgM and/or variable deficiency of IgG, IgG1, and IgG3 occurred in the sera of 13/13 RFLP-positive, EBV-negative males. No consistent abnormalities were noted in 14 RFLP-negative, EBV-negative males. We conclude that the immune defect in XLP is not solely EBV-specific, although EBV is responsible for most of the morbidity and all of the mortality. Further, serial measurement of Ig levels may provide information regarding status of EBV-negative males at risk where RFLP analysis is uninformative or in families where sporadic cases of fatal IM, acquired hypogammaglobulinemia or NHL have occurred, but wherein the genotype of XLP cannot be documented.
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PMID:Immunoglobulin class and subclass deficiencies prior to Epstein-Barr virus infection in males with X-linked lymphoproliferative disease. 168 54

We studied the cellular function and lymphokine production of T cells from patients with X-linked lymphoproliferative disease (XLP) when activated by the challenge with Epstein-Barr virus (EBV) infection. We used an assay system in which T cells were stimulated with membrane antigens of autologous EBV-infected B lymphoblastoid cell lines (B-LCL) and we examined cellular and humoral factors derived from the stimulated T cells which control the growth of EBV-infected B-LCL. Immunoglobulin secretion from the autologous B-LCL was suppressed with radiosensitive suppressor cells in the patients with XLP. The degree of suppression was correlated with the immunoglobulin levels in the serum of the patients with acquired hypogammaglobulinaemia (P less than 0.05). In addition, T cells from the patients with XLP failed to produce interferon-gamma (IFN-gamma) (P less than 0.001). Moreover, the T cell supernatants from the patients with XLP were less potent to inhibit the B-LCL growth. This diminished inhibition of the B-LCL growth was correlated well with the decreased concentration of IFN-gamma in the T cell supernatants. These findings suggest that suppressor cells may be activated in the patients with the hypogammaglobulinaemia phenotype of XLP, but the frequent development of B cell lymphoma in hypogammaglobulinaemia indicate that immunoglobulin suppression may not exert enough pressure on the in vivo growth of EBV-infected B cells. The defective secretion of IFN-gamma may be, at least partially, responsible for the abnormal cytotoxic T cell and natural killer activities found in the patients with XLP, and may indicate the clinical evaluation about the preventive injection of IFN-gamma against the development of malignant lymphoma.
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PMID:Defective control of Epstein-Barr virus-infected B cell growth in patients with X-linked lymphoproliferative disease. 184 27

During the past decade, 240 males with X-linked lymphoproliferative disease (XLP) within 59 unrelated kindreds have been identified worldwide. One half of the patients have developed fatal infections mononucleosis, about one third have acquired hypogammaglobulinemia, and another one fourth have developed malignant lymphoma. Less commonly occurring phenotypes include hyperimmunoglobulinemia M, bone marrow hypoplasia, and necrotizing lymphoid vasculitis. The fatal infectious mononucleosis phenotype occurs at about 2.5 years of age, and median survival is only 33 days following onset of illness. The acquired hypogammaglobulinemia and malignant lymphoma phenotypes are associated with longer survivals, but to date no patient has been documented as living into the fifth decade of life. We summarized recent research findings and technological advances that permit accurate diagnosis of carrier females and detection of males with the XLP gene before Epstein-Barr virus infection.
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PMID:Methods of detection of new families with X-linked lymphoproliferative disease. 184 89

Between a third and half of all males with SCID and no family history of immunodeficiency represent the first manifestation in their family of a new mutation of the gene that causes X-linked SCID. These patients, like boys with a positive family history of X-linked SCID, have markedly reduced numbers of T cells, elevated numbers of B cells, and hypogammaglobulinemia. The hypogammaglobulinemia is due, at least in part, to the expression of the gene defect in B cells as well as in T cells. Patients with X-linked SCID who are treated with bone marrow transplant tend to engraft T cells readily but they do not engraft B cells unless they are treated with cytoreductive therapy prior to transplant. B-cell function after transplant tends to be poor, even in patients who have received transplants from HLA matched siblings. Better transplant strategies are required to achieve optimum long-term results in patients with X-linked SCID.
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PMID:X-linked severe combined immunodeficiency. 193 18

Common variable immunodeficiency is a heterogeneous syndrome which may occur at any age and may be associated with recurrent sinopulmonary and gastro-intestinal infections, atopic illness, autoimmune disorders and varying degrees of hypogammaglobulinaemia (1). The clinical syndrome is very similar to that described in X-linked agamma-globulinaemia but the mode of inheritance is unknown (2). In this communication, a patient with Turner's syndrome with X-isoX chromosomal pattern in conjunction with common variable immunodeficiency is reported.
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PMID:Common variable immunodeficiency in association with Turner's syndrome. 196 51

X-linked lymphoproliferative disease (XLP) results in exquisite vulnerability to EBV infection: fatal infectious mononucleosis (IM), acquired hypogammaglobulinemia and/or malignant lymphoma occur invariably following infection with the virus. We have identified the XLP locus using the DXS42 DNA probe having restriction length polymorphisms (RFLP). We report an interstitial deletion involving a portion of the Xq25 region in the X chromosome of an affected male, one sister, and their mother. Concordance has been established between the presence of a deletion and RFLP linkage analysis with the DXS42 probe in the kindred. This finding will contribute substantially to the mapping, cloning, and sequencing of the gene responsible for XLP.
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PMID:Partial Xq25 deletion in a family with the X-linked lymphoproliferative disease (XLP) 235

A 34-year-old man with X-linked infantile hypogammaglobulinemia, bronchiectasis, and chronic liver disease had a papular eruption on the trunk and upper extremities. A biopsy specimen revealed caseating granulomas, but special stains, cultures, and electron microscopy failed to reveal an infectious organism. Immunohistochemistry showed that the lymphocytes within the granulomas were almost exclusively of the CD8+ cytotoxic/suppressor T phenotype. Phenotypic analysis of the circulating lymphocytes showed normal numbers of CD4+ (helper/inducer) and CD8+ T cells, whereas B cells were undetectable. Other examples of noninfectious granulomatous disease have been reported in patients with primary hypogammaglobulinemia, but this is the first case of caseating cutaneous granulomatous disease to be reported in a patient with X-linked infantile hypogammaglobulinemia.
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PMID:Caseating cutaneous granulomas in a patient with X-linked infantile hypogammaglobulinemia. 203 43

1. Natural killer cell activity and monocyte cytotoxicity was evaluated in three subgroups of patients with primary hypogammaglobulinaemia (ten patients with late-onset, eight with X-linked and five with early-onset disease) and in two patients with secondary late-onset hypogammaglobulinaemia against the K-562 erythroleukaemia, the CaCo-2 colon carcinoma and the HGT-1 gastric carcinoma cell lines and compared with the results found in healthy control subjects. 2. The natural killer cell activity, both spontaneous and after stimulation with recombinant gamma-interferon, was found to be decreased in patients with late-onset hypogammaglobulinaemia. The natural killer cell activity in this subgroup was found to be impaired in 60% of the patients (P less than 0.05). Within the other forms of primary hypogammaglobulinaemia a decreased natural killer cell activity was found to be less frequent (33%). 3. The lectin-mediated cytotoxicity by phytohaemagglutinin resulted in a similar maximal cytotoxicity in patients and control subjects. 4. The cytotoxicity of monocytes, spontaneous and after recombinant gamma-interferon stimulation, was found to be normal in all patients with hypogammaglobulinaemia. 5. The impaired natural killer cell activity which was found in patients with late-onset hypogammaglobulinaemia may contribute to the increased susceptibility to infections and to the increased incidence of malignancies in this subgroup of patients with primary hypogammaglobulinaemia.
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PMID:Decreased natural killer cell activity in late-onset hypogammaglobulinaemia. 215 38


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