Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0079731 (B-cell lymphoma)
 16,671 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

X-linked lymphoproliferative (XLP) disease is a primary immunodeficiency caused by a defect in the SH2D1A gene. At least 3 major manifestations characterize its clinical presentation: fatal infectious mononucleosis (FIM), lymphomas, and immunoglobulin deficiencies. Common variable immunodeficiency (CVID) is a syndrome characterized by immunoglobulin deficiency leading to susceptibility to infection. In some patients with CVID, a defective btk or CD40-L gene has been found, but most often there is no clearly identified etiology. Here, 2 unrelated families in whom male members were affected by CVID were examined for a defect in the XLP gene. In one family previously reported in the literature as having progressive immunoglobulin deficiencies, 3 brothers were examined for recurrent respiratory infections, whereas female family members showed only elevated serum immunoglobulin A levels. A grandson of one of the brothers died of a severe Aspergillus infection secondary to progressive immunoglobulin deficiency, FIM, aplastic anemia, and B-cell lymphoma. In the second family, 2 brothers had B lymphocytopenia and immunoglobulin deficiencies. X-linked agammaglobulinemia syndrome was excluded genetically, and they were classified as having CVID. The occurrence of FIM in a male cousin of the brothers led to the XLP diagnosis. Because the SH2D1A gene was found altered in both families, these findings indicate that XLP must be considered when more than one male patient with CVID is encountered in the same family, and SH2D1A must be analyzed in all male patients with CVID. Moreover, these data link defects in the SH2D1A gene to abnormal B-lymphocyte development and to dysgammaglobulinemia in female members of families with XLP disease.
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PMID:Alterations of the X-linked lymphoproliferative disease gene SH2D1A in common variable immunodeficiency syndrome. 1152 Jul 77

Antibody deficiency (AD) comprises a group of diseases characterized by the inability to develop an effective antibody mediated immune response. These patients suffer mainly of encapsulated extracellular bacterial infections of the respiratory tract. The aim of our study was to describe the clinical characteristics of 128 patients with suspected or confirmed AD who were referred to 3 immunodeficiency centers for adults, from June 2004 to December 2009. Three of these patients (2.3%) consulted for recurrent infections only once, without sufficient data for a proper classification, and were excluded. Of the remaining 125 patients, in 21 (16.8%) AD was excluded, 8 cases (6.4%) were diagnosed with secondary antibody immunodeficiency (SAD) and 96 (76.8%) with primary antibody immunodeficiency (PAD). SAD causes were: one renal failure, one phenytoin use, two monoclonal gammopathy and four B cell lymphoma. The causes of these 96 PAD were: 57 common variable immunodeficiency, 12 X-linked agammaglobulinaemia, 10 selective IgA deficiency, seven IgG1 deficiency, three hyper-IgM syndrome, three IgM deficiency, two X-linked proliferative syndrome, one Good syndrome and one antibody functional deficiency. Sixty-seven patients were in follow up at the time of completion of the study, 25 of them were on follow up at the beginning of the study. Among the 58 patients with indication of gamma globulin replacement therapy, 54 were in treatment at the end of the study. In four patients the initial diagnosis of PAD was not confirmed.
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PMID:[Antibody deficiencies. A survey from three Clinical Immunology Centers for adults in Buenos Aires city]. 2189 48