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)

X-linked lymphoproliferative disease (XLP) is a rare immune disorder commonly triggered by infection with Epstein-Barr virus. Major disease manifestations include fatal acute infectious mononucleosis, B-cell lymphoma, and progressive dys-gammaglobulinemia. SAP/SH2D1A, the product of the gene mutated in XLP, is a small protein that comprises a single SH2 domain and a short tail of 26 amino acids. SAP binds to a specific motif in the cytoplasmic tails of the cell surface receptors SLAM and 2B4, where it blocks recruitment of the phosphatase SHP-2. Here it is reported that Ly-9 and CD84, 2 related glycoproteins differentially expressed on hematopoietic cells, also recruit SAP. Interactions between SAP and Ly-9 or CD84 were analyzed using a novel yeast 2-hybrid system, by COS cell transfections and in lymphoid cells. Recruitment of SAP is most efficient when the specific tyrosine residues in the cytoplasmic tails of Ly-9 or CD84 are phosphorylated. It is concluded that in activated T cells, the SAP protein binds to and regulates signal transduction events initiated through the engagement of SLAM, 2B4, CD84, and Ly-9. This suggests that combinations of dysfunctional signaling pathways initiated by these 4 cell surface receptors may cause the complex phenotypes of XLP. (Blood. 2001;97:3867-3874)
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PMID:Cell surface receptors Ly-9 and CD84 recruit the X-linked lymphoproliferative disease gene product SAP. 1138 28

Epstein-Barr virus (EBV) is the causative agent of infectious mononucleosis. Burkitt's lymphoma, nasopharyngeal carcinoma and post-transplant lymphoproliferative diseases are also associated with EBV. Diagnosis is frequently based on detection of specific antibodies. Using three parameters (anti VCA-IgM, anti VCA-IgG and anti EBNA-1 IgG), it is possible to define infection status and diagnose acute or past infection. However, sometimes the detection of atypical serological profiles makes it difficult to interpret these results. This study aims to evaluate the serological profiles of patient sera suspected of EBV infection and to determine atypical profiles. Sera of 2749 patients were analyzed between January 2014 and August 2016, in the Dokuz Eylul University Hospital Central Laboratory and evaluated retrospectively. Serum samples were tested for EBV VCA IgM and EBV VCA IgG antibodies with immunofluorescence test (Euroimmun, Germany), EBNA-1 IgG antibodies with enzyme immunoassay (Euroimmun, Germany). Medical files of the patients with two or more samples and have an atypical profile were reviewed. Patients were grouped as no EBV infection, acute infection, past infection and atypical serologic profile according to three routine laboratory assays (VCA IgG, VCA IgM and EBNA-1 IgG). Out of 2794 subjects 1334 (48.5%) were female and 1415 (51.5%) were male, with mean age 30 (< 1-89 years, median value: 27). The distribution of the results was; 72.5% past infection, 10.9% absence of EBV infection and 5.2% acute infection and 11.4% showed atypical serologic profile. Among the atypical profiles, isolated VCA-IgG positivity was the most frequent pattern detected in 7.9% which is followed by 2.7% of the cases with all three markers positive and 0.8% with isolated EBNA-1 IgG positivity. Off the patients, 72.5% were seropositive for EBV and this result is consistent with the seroprevalence studies previously conducted in Turkey. The rate of atypical profiles was 11.4% which is close to the result (15%) of another study performed in Izmir. Nearly one third of the patients with atypical serological profile had an immune disorder and it was possible to reach a conclusion only among half of the patients during serological follow-up. This study points out that clinical diagnosis and serologic follow-up is important for the interpretation of the atypical profiles.
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PMID:[Atypical profile problem in serological diagnosis of EBV]. 2915 68