Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: a working group report of the Primary Immunodeficiency Diseases …

IK Chinn, AY Chan, K Chen, J Chou, MJ Dorsey… - Journal of Allergy and …, 2020 - Elsevier
Genetic testing has become an integral component of the diagnostic evaluation of patients
with suspected primary immunodeficiency diseases. Results of genetic testing can have a
profound effect on clinical management decisions. Therefore clinical providers must
demonstrate proficiency in interpreting genetic data. Because of the need for increased
knowledge regarding this practice, the American Academy of Allergy, Asthma & Immunology
Primary Immunodeficiency Diseases Committee established a work group that reviewed and …
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