Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: The Primary Immune Deficiency Treatment Consortium experience - Shearer, William T.; Dunn, Elizabeth; Notarangelo, Luigi D.; Dvorak, Christopher C.; Puck, Jennifer M.; Logan, Brent R.; Griffith, Linda M.; Kohn, Donald B.; O'Reilly, Richard J.; Fleisher, Thomas A.; Pai, Sung-Yun; Martinez, Caridad A.; et al. (Journal of allergy and clinical immunology, 2014)
Keywords: Allergy and Immunology; Allogeneic hematopoietic cell transplantation; Biological and medical sciences; clinical trial; Disease; Enzymes; Fundamental and applied biological sciences. Psychology; Fundamental immunology; Gene therapy; Genotype & phenotype; Humans; Immunodeficiencies; Immunodeficiencies. Immunoglobulinopathies; Immunologic Deficiency Syndromes - diagnosis; Immunology; Immunopathology; Infections; Laboratories; Medical sciences; Mutation; North America; Patients; Practice Guidelines as Topic; primary immunodeficiency; Retrospective Studies; Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis; Severe Combined Immunodeficiency - diagnosis; Studies; North America; clinical trial; PIDTC; Allogeneic hematopoietic cell transplantation; ERT; primary immunodeficiency; HCT; gene therapy; PID; TREC; SCID; ADA; Primary Immune Deficiency Treatment Consortium; Adenosine deaminase; T-cell receptor excision circle; Enzyme replacement therapy; Primary immunodeficiency disease; Severe combined immunodeficiency disease; Hematopoietic stem cell transplantation; Immunopathology; Severe combined immunodeficiency; Stem cell; Hematopoietic cell; Homograft; Genetic disease; First line treatment; Immunology; Allogeneic hematopoietic stem cell transplantation; Criterion; Primary; Graft; Clinical trial; Diagnosis; Combined immune deficiency; Gene therapy; Omenn syndrome