Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0002874 (aplastic anemia)
 5,905 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
 ...
PMID:Variable phenotypic expression of an X-linked recessive lymphoproliferative syndrome. 19 60

A 17-year-old female developed severe aplastic anemia following serologically proven infectious mononucleosis. In vitro studies, using the granulocyte colony forming technique, suggested that the aplasia may have resulted from an immune mechanism. The patient's marrow grew no granulocyte colonies and caused inhibition of colony formation when mixed with normal marrows. The patient recovered fully after therapy with antithymocyte globulin and marrow cultures showed disappearance of the inhibitory effect. These observations suggest that the severe aplasia may have resulted from an aberrant immune response which followed infection by EB virus.
 ...
PMID:Aplastic anemia following infectious mononucleosis: possible immune etiology. 31 84

A 7-year-old boy developed fatal aplastic anaemia, 2 weeks after the first signs of infectious mononucleosis. Although some drugs were administered, infection with the Epstein-Barr virus, leading to infectious mononucleosis, is assumed to be the cause of this aplastic anaemia. Some mechanisms possibly leading to the aplasia are discussed.
 ...
PMID:Fatal aplastic anaemia complicating infectious mononucleosis. 62 31

We report herein a 61-year-old man with chronic cold agglutinin disease which occurred after a diagnosis of aplastic anemia. The patient's pancytopenia was recognized upon visiting a local doctor because of high fever and cough on December 21, 1985. He was subsequently admitted to our hospital because of anasarca on January 31, 1986, and was diagnosed as having aplastic anemia. He was treated with prednisolone, and was discharged after his anemia improved. He was readmitted on October 23, 1988, because of icterus. Laboratory data on the patients second admission revealed increased reticulocyte count, hyperplastic bone marrow with a predominance of erythroblasts, increased serum indirect bilirubin, increased serum LDH1 value and decreased serum haptoglobin. Moreover, cold agglutinin titer was increased, anti-IF antibody was positive, and anti-IgM antibody was recognized with direct anti-globulin test. There was no precedent infection such as mycoplasma pneumonia or infectious mononucleosis. Hence, this patient was diagnosed as having chronic cold agglutinin disease.
 ...
PMID:[Chronic cold agglutinin disease occurring after a diagnosis of aplastic anemia]. 154 14

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.
 ...
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.
 ...
PMID:Immunoglobulin class and subclass deficiencies prior to Epstein-Barr virus infection in males with X-linked lymphoproliferative disease. 168 54

The specific antibody response to Epstein-Barr virus (EBV) antigens of 41 bone marrow transplant recipients with leukemia or aplastic anemia was examined retrospectively by immunofluorescence test (IF) over 1 year. We observed high titers (greater than 640) of IgG-viral capsid antigen (VCA) with emergence of IgG-early antigen (EA) and frequent absence or low levels of Epstein-Barr nuclear antigen (EBNA) antibodies. After absorption to remove rheumatoid factor (RF), five of the 41 recipients had IgM-VCA antibody to EBV, which appeared between weeks 26 and 48 after BMT and persisted for 1-4 months. No heterophil antibodies were detected in these sera, and none of the five recipients had a history of infectious mononucleosis.
 ...
PMID:Epstein-Barr virus serology in bone marrow transplantations: a one-year retrospective study with detection of EBV IgM-VCA-specific antibodies. 301 81

Epstein-Barr virus (EBV) infects virtually everyone by adulthood, and a lifelong latency is maintained. It infects children silently, whereas the majority of adolescents have infectious mononucleosis (IM). Children who have IM before 5 years of age are often heterophil negative; EBV-specific antibodies are required for diagnosis. On rare occasions the symptoms of IM may persist in a chronic or recurrent form, and fatal infectious mononucleosis occurs rarely. Depending on the type and degree of immune deficiency and the time the EBV infection occurs in the life cycle, various atypical outcomes can occur. Children with primary immune deficiency can have fatal or chronic IM, malignant B cell lymphoma, virus-associated hemophagocytic syndrome, aplastic anemia, or acquired hypogammaglobulinemia. The various outcomes of the EBV infections are likely governed by the immune response of the individual. The increased frequency of B cell neoplasms in immunodeficient patients is likely due, in part, to EBV. Individuals with acquired immune deficiency disorders such as AIDS or allograft recipients may develop malignant B cell lymphomas which tend to be polyclonal, but which may progress through stages of oligoclonality to monoclonality. This conversion likely results from specific reciprocal chromosomal translocations such as t(8;14), which is seen in Burkitt's lymphoma. Detection of EBV in immunodeficient patients is achieved by EBV-specific antibody studies or isolation of virus by obtaining spontaneous lymphoblastoid cell lines from peripheral blood, isolating virus from throat washings, or identifying EBV genome by molecular hybridization techniques. Prevention of primary immune deficiency by early detection and genetic counseling and monitoring of patients for occurrence of EBV infection may lead to early treatment. Acyclovir and immunoglobulin therapy can be of value in some patients with active EBV infection.
 ...
PMID:Epstein-Barr virus: the spectrum of its manifestations in human beings. 303 69

During a 2-week period three unrelated children presented with severe aplastic anaemia at a general hospital serving a population of 25,000 children aged 0-15 years. The probability of this occurring by chance alone was 0.00009 (exact probability cluster analysis). Serology for common viral infections including hepatitis A & B and infectious mononucleosis was negative. It was not possible to demonstrate IgM antibodies to human parvovirus (HPV) by radioimmunoprecipitation or HPV virions by DNA hybridization in the patients or any members of their families. Epidemiological investigation failed to demonstrate a common environmental toxin. It did reveal, however, that all three patients had spent time, within the preceding 3 months in a swimming pool and its surrounding area in a region of Cardiff where none of them resided. Pool maintenance was satisfactory and water analysis showed no abnormality. The possibility must remain that the cluster was caused by an undisclosed environmental toxin.
 ...
PMID:A cluster of three cases of aplastic anaemia in children. 336 32

A kindred with five affected maternally related male members showed variable phenotypic expression of the X-linked lymphoproliferative syndrome. In one of the children, agammaglobulinemia developed following infectious mononucleosis. His brother had aplastic anemia in infancy and 21/2 years later died of overwhelming pneumonia resulting from ornithosis. A third brother died of reticulum cell sarcoma. Two maternally related male cousins died of reticulum cell sarcoma of the neck.
 ...
PMID:X-linked lymphoproliferative syndrome. A new kindred with variable phenotypic expression. 388 47


1 2 3 4 Next >>