Diagnostic Interpretation of Genetic Studies in Patients with Primary Immunodeficiency Diseases: A Working Group Report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma, and Immunology.

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ID: 56284
2019
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Abstract
Genetic testing has become an integral component of the diagnostic evaluation of patients with suspected primary immunodeficiency diseases. Results of genetic testing can have profound impact on clinical management decisions. Clinical providers must therefore demonstrate proficiency in interpreting genetic data. Because of the need for increased knowledge regarding this practice, the American Academy of Allergy, Asthma, and Immunology Primary Immunodeficiency Diseases Committee established a Work Group that reviewed and summarized information concerning appropriate methods, tools, and resources for evaluating variants identified by genetic testing. Strengths and limitations of tests frequently ordered by clinicians were examined. Summary statements and tables were then developed to guide the interpretation process. Finally, the need for research and collaboration was emphasized. Greater understanding of these important concepts will improve the diagnosis and management of patients with suspected primary immunodeficiency diseases.
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chinn2019diagnosticthe Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Chinn, Ivan K;Chan, Alice;Chen, Karin;Chou, Janet;Dorsey, Morna J;Hajjar, Joud;Jongco, Artemio M;Keller, Michael D;Kobrynski, Lisa J;Kumanovics, Attila;Lawrence, Monica G;Leiding, Jennifer W;Lugar, Patricia L;Orange, Jordan S;Patel, Kiran;Platt, Craig D;Puck, Jennifer M;Raje, Nikita;Romberg, Neil D;Slack, Maria A;Sullivan, Kathleen E;Tarrant, Teresa K;Torgerson, Troy R;Walter, Jolan E;
Journal the journal of allergy and clinical immunology
Year 2019
DOI
S0091-6749(19)31245-X
URL
Keywords
exome sequencing sanger sequencing genome sequencing genetic testing mendelian chromosomal microarray gene panel primary immunodeficiency tools variant interpretation

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