Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Severe combined immunodeficiency SCID due to adenosine deaminase ADA deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.
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Skip to search form Skip to main content You are currently offline. Some features of the site may not work correctly. Adenosine Desaminase ADA deficiency, is a purine metabolic disorder that cause severe combined immunodeficiency SCID due to the accumulation of toxic metabolites that primarily affects development, differentiation and function of T and B lymphocytes. In addition, some patients show neurological, renal and liver abnormalities, delayed in development, deafness and seizures.
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Luigi D. Notarangelo Medicine Hematology. American Society of Hematology. Education Program Human adenosine deaminase 2 induces differentiation of monocytes into macrophages and stimulates proliferation of T helper cells and macrophages. Andrey V. Gene therapy for immunodeficiency due to adenosine deaminase deficiency.
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Notarangelo LD. Primary immunodeficiencies PIDs presenting with cytopenias. Hematol ; Immunodeficiencies and enzyme deficiencies. Ist Sieroter Milan ; 31; 57 2 :