Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0021345 (infectious mononucleosis)
 3,358 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Prospective studies demonstrated variable phenotypic expression of the X-linked recessive lymphoproliferative syndrome (X.L.R.L.S.) in three brothers: (1) hypogammaglobulinaemia and subclinical Epstein-Barr-virus (E.B.V.) infection with antibody response to E.B.V.; (2) E.B.V. infection with defective immune response to E.B.V., fatal infectious mononucleosis (I.M.), and immunoblastic lymphoma; and (3) histiocytic lymphoma. Hypogammaglobulinaemia and measles pneumonitis had preceded infection with E.B.V. The diverse phenotypic expressions probably resulted from the varied immune response to E.B.V. Recombination of X chromosomes was documented by Xg-blood-group studies in a survivor. E.B.V. can induce fatal I.M. and malignant lymphoma in X.L.R.L.S., but an immune response to E.B.V. can be protective.
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PMID:Epstein-Barr virus infections in the X-linked recessive lymphoproliferative syndrome. 8 16

Investigation of a family with cancer in boys revealed that at least 20 males had the X-linked recessive lymphoproliferative syndrome. A variety of phenotypes occurred: aproliferative phenotypes consisted of aplastic anemia, agranulocytosis or acquired hypogammaglobulinemia; and proliferative phenotypes of B cells included disorders associated with the Epstein-Barr virus, American Burkitt's lymphoma, immunoblastic sarcoma of B cells, fatal infectious mononucleosis or plasmacytoma. The lymphoproliferative disorders observed in males could have resulted from an immunodeficiency to Epstein-Barr virus. The variable phenotypic expression could have resulted from individual differences in the viral dose, duration of exposure and age at which the boys were exposed to the virus. Aproliferative phenotypes such as acquired hypogammaglobulinemia could have ensued from excessive suppressor-cell activity on B cells, whereas proliferative phenotypes such as Burkitt's lymphoma or fatal infectious mononucleosis could have resulted from infection by Epstein-Barr virus and failure to stop proliferation of B cells.
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PMID:Variable phenotypic expression of an X-linked recessive lymphoproliferative syndrome. 19 60

An etiologic study was made of 107 cases of granulomatous hepatitis which were observed in a Department of Internal Medicine between January, 1971 and December, 1977 (excluding the hepatobiliary diseases). The most common etiology was tuberculosis (30 cases, 28 percent) followed by sarcoidosis (19 cases, 17.7 percent), Mediterranean exanthematous fever (13 cases, 12.1 percent), brucellosis (8 cases, 7.4 percent) typhoid fever (7 cases, 6.5 percent) and the idiopathic forms (8 cases, 7.4 percent). A lower rate of incidence was among Hodgkin's disease, toxoplasmosis, adenocarcinomas, leprosy, and those of unknown etiology, classified in this way because the study and follow-up of the patients could not be completed. There were, moreover, individual cases caused by mononucleosis, BCG reaction, hypogammaglobulinemia, celiac disease, and temporal arteritis. From a clinical point of view 50 percent of the patients had hepatomegaly and moderate disturbance of the liver enzymes. The most important enzymatic increases were detected in the cases caused by brucellosis; in the cases which were secondary to sarcoidosis the liver enzymes were normal. A comparison is established between the etiologic incidence of the present series and of others published in the literature. The causes and diagnostic problems of this type of lesion are discussed.
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PMID:[Granulomatous hepatitis. Etiologic study of 107 cases (author's transl)]. 45 94

In this series, the commonest aetiology was tuberculosis (30 cases, 28%), followed by sarcoidosis (18 cases, 17,7%), mediterranean fever (Olmer's disease) (13 cases, 12,1%), brucellosis (8 cases, 7,4%), typhoid fever (7 cases, 6,6%) and idiopathic forms (8 cases, 7,4%). These were followed by Hodgkin's disease, toxoplasmosis, adenosarcoma, and leprosy. Finally, there were single cases due to infectious mononucleosis, B.C.G. reaction, hypogammaglobulinaemia, coeliac disease and temporal arteritis. Half of the patients had hepatomegaly and an increase, in general moderate, in hepatic enzymes (transaminases, alkaline phosphatase). The highest enzyme levels were seen in cases of brucellosis, hepatic enzymes being normal in patients with sarcoidosis.
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PMID:[Granulomatous hepatitis: aetiological study of 107 cases (author's transl)]. 73 1

A 30-year-old male with infectious mononucleosis by the Epstein-Barr virus who presented severe neutropenia and thrombocytopenia and type IgG acquired transitory hypogammaglobulinemia as complications during the acute period of the disease is presented. Although the etiopathogenesis of these phenomena is usually associated with an autoimmune basis, the antiplatelet and antileukocyte antibodies were negative. A bibliographic revision of the hematologic alterations of this disease was carried out and it was observed that the combination of the complications described has not been previously referred, thus, the present case may be the first observation with these characteristics.
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PMID:[Severe leukopenia and thrombocytopenia and transient acquired hypogammaglobulinemia in a patient with infectious mononucleosis]. 131 37

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

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

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


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