Article
Rapid identification of primary atopic disorders (PAD) by a clinical landmarkguided, upfront use of genomic sequencing
1 Jan 2024
Abstract excerpt
Primary atopic disorders (PAD) are monogenic disorders caused by pathogenic gene variants encoding proteins that are key for the maintenance of a healthy skin barrier and a well-functioning immune system. Physicians face the challenge to find single, extremely rare PAD patients/families among the millions of individuals with common allergic diseases. We describe case scenarios with signature PAD. We review the...
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