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)

We describe the first case of an Epstein-Barr virus (EBV)-associated natural killer-large granular lymphocyte (NK-LGL) leukemia in the United States to the best of our knowledge. A 29-year-old woman of Japanese descent developed EBV infection after a blood transfusion as indicated by a rise in serum antibody titers. Peripheral blood and bone marrow aspirate smears demonstrated increased LGLs. Flow cytometry showed that these cells expressed NK-associated surface antigens. Cytogenetic analysis of the bone marrow aspirate showed two distinct but related clones with multiple copies of a modified 7 marker chromosome. Death followed colonic perforation. Findings at necropsy included bone marrow lymphocytosis and erythrophagocytosis, a mononucleosis-like lymphadenitis, atypical hepatitis with a mixed, predominantly T-cell infiltrate, interstitial pneumonitis, and multiorgan system vasculitis with perforation of the transverse colon. Epstein-Barr virus transcripts were identified in lymphocytes infiltrating liver and peripheral nerve by in situ hybridization. In addition, Southern blot analyses showed monoclonal bands superimposed on oligoclonal ladders of EBV termini in liver and lymph node. The identical episomal form of EBV was found in the bone marrow, lymph node, and liver. No immunoglobulin (Ig), T-cell receptor beta, or T-cell receptor gamma chain gene rearrangements were identified. These studies support the hypothesis that the LGL population was a neoplastic EBV-related clonal proliferation of NK cells.
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PMID:Epstein-Barr virus-associated natural killer-large granular lymphocyte leukemia. 808 73

We studied 14 cases that showed a morphologic appearance of peripheral T-cell lymphoma and contained substantial numbers of CD20+ large B cells. In all but 2 cases, the CD20+ large cells showed a mix of kappa and lambda light chain expression. Two cases showed a focal predominance of kappa expression. In situ hybridization using the EBER1 probe for detection of Epstein-Barr virus (EBV) RNA was performed on every case. EBV RNA was present in 10 cases. Of 8 cases with EBV RNA stained by immunohistochemistry for the latent membrane protein of EBV, 6 were positive. Double-labeling immunohistochemistry and in situ hybridization confirmed that EBV was present in the large B cells. Polymerase chain reaction (PCR) analysis showed a clonal rearrangement of the T-cell receptor (TCR)-gamma chain gene in 12 of 13 cases tested. One additional case showed a clonal rearrangement of the TCR-beta chain gene by Southern blot hybridization. PCR analysis showed a clonal immunoglobulin gene rearrangement in 5 cases, a suggestion of a clonal rearrangement in 1, an oligoclonal pattern in 4, and a polyclonal pattern in 4. The finding of large B and T cells may result in a misdiagnosis of a reactive process or of T-cell-rich B-cell lymphoma. The presence of EBV in some cases could cause further confusion with the reactive T- and B-immunoblastic proliferation of infectious mononucleosis.
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PMID:Peripheral T-cell lymphoma complicated by a proliferation of large B cells. 1094 39

Periodically the World Health Organization and currently the International Union of Immunology Societies publish a classification of primary immunodeficiency diseases (PID) that includes diagnostic and therapeutic guidelines. The latest of these publications dates from 1999 and includes a new group of PID, the proliferative autoimmune syndromes. Furthermore, new forms of severe combined immunodeficiency (SCID) and of recessive autosomal agammaglobulinemia are described. From the publication of this classification until the end of the year 2000 a minimum of three new PIDs have been described and a further two should probably be added. Progress in the molecular biology of these diseases has given rise not only to more accurate diagnosis but also to greater insight into the clinical spectrum of these diseases. A mutation or deletion in a gene can provoke the complete absence of its product; sometimes expression is partial or normal but functional activity is absent or defective. In certain cases, partial or defective activity causes variant forms of the disease presenting symptomatology or atypical cellular phenotype. In other cases, this is not cause of the variant form, which can appear in interfamilial cases sharing the same mutation. In these cases, these differences can be attributed to environmental factors or to other genes able to modify the affected gene. In this article we provide examples of variant forms in several PIDs. Some are late onset forms, such as X-linked agammaglobulinemias diagnosed in adults, since until diagnosis, clinical symptomatology was minimal. In adenosine-deaminase deficiency, a serious and highly lymphoproliferative form of SCID, patients have been described whose symptomatology began after the age of 20 years. Another SCID, RAG1 and RAG2 recombinase deficiency, may produce a typical form with a characteristic T-B-NK + phenotype, Omenn's syndrome, or forms with an unexpected T-B + NK + phenotype. Deficiency in common gamma chain receptor for IL-2 may produce phenotypical variants that can lead to diagnostic error. X-linked lymphoproliferative syndrome may present as fulminant infectious mononucleosis, as leukemia or lymphoma or as hipo- or agammaglobulinemia. Possibly, some patients diagnosed with common variable immunodeficiency or with x-linked agammaglobulinemia do in fact have this syndrome. Chronic granulomatous disease is usually of early-onset, but late-onset forms have been described. In one case the first clinical manifestation was produced when the patient was 60 years old. The above examples serve to highlight that, even though PIDs are usually suspected by pediatricians, in some cases the diagnosis may be missed by internists or non-pediatricians. Moreover, the clinical and laboratory findings of these variant forms must be determined to carry out an early diagnosis, which is essential for a favorable therapeutic outcome.
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PMID:[Primary immunodeficiencies. Clinical features and variant forms]. 1143 82