Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0004135 (ATM)
 13,001 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The lymphocytes from the patients with primary immunodeficiency diseases and those under immunosuppressive conditions such as viral infection or administration of antimetabolites were studied by various parameters of T- and B-lymphocytes. T-lymphocyte specific antigen, spontaneous rosette formation with sheep erythrocytes, phytohaemagglutinin response of the lymphocytes and delayed hypersensivity skin reaction were used to assess T-lymphocytes, while complement receptor, surface immunoglobulin, serum immunoglobulin levels and antibody response to antigens were estimated as parameters of B-lymphocytes. 9 of infantile agammaglobulinemia, 8 severe combined immunodeficiency, 5 ataxia telangiectasia, d Di-George syndrome, 11 common variable immunodeficiency, 3 isolated IgA deficiency and 4 cases thymectomized more than 10 years previously were studied and discussed for the results. The peripheral blood lymphocytes, especially T-lymphocytes were reduced in the acute stage of measles infection, while they were increased in infectious mononucleosis caused by EB (Epstein-Barr) virus. Atypical lymphocytes observed in the later disease seemed to originate from mainly T-lymphocytes. Cyclophosphamide had suppressive effect selectively on B-lymphocytes.
 ...
PMID:T- and B-lymphocytes in immunological disorders. 437 62

The immunodeficiency in ataxia-telangiectasia (A-T) is highly variable. Laboratory abnormalities correlate poorly with susceptibility to infection and are almost exclusively restricted to patients with mutations resulting in no A-T mutated kinase activity. Opportunistic infections are unusual but sinopulmonary infections are common and can contribute to the development of pulmonary insufficiency. Preventing lung disease involves maximizing immunity, as well as measures to counteract the tendency to develop pulmonary aspiration, which increases with age. Immunizations should include pneumococcal conjugate, influenza and, in all but the most severely lymphopenic, measles, mumps, rubella, and varicella zoster vaccines. Prophylactic azithromycin is commonly used and believed to be useful, although a firm evidence base for its use in A-T is lacking. Approximately 12-15% of patients require regular immunoglobulin therapy. Further studies are required on potential disease-modulating therapies, such as antioxidants and corticosteroids. Strategies for the modulation of gene transcription remain at the preclinical laboratory stage.
 ...
PMID:Update on the management of the immunodeficiency in ataxia-telangiectasia. 2047 42