This content is in French.
Early identification of primary atopic disorders (PAT) through early use of clinical-guided genomic sequencing
15 octobre 2024
Primary atopic disorders (TAP) are monogeny disorders caused by pathogenic variants of genes coding for proteins essential to maintaining a healthy skin barrier and a strong immune system.
Physicians are challenged to find unique and extremely rare TAP patients/families among the millions of individuals with common allergic diseases.
The authors describe case scenarios with characteristic TAPs. They reviewed the literature and derived specific clinical warning signs for TAP detection. These include positive family history and/or signs of pathological susceptibility to infections, immunodysregulation or syndromic disease.
Physicians are challenged to find unique and extremely rare TAP patients/families among the millions of individuals with common allergic diseases.
The authors describe case scenarios with characteristic TAPs. They reviewed the literature and derived specific clinical warning signs for TAP detection. These include positive family history and/or signs of pathological susceptibility to infections, immunodysregulation or syndromic disease.
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