Article

Genetics in inborn errors of immunity: pediatric autoinflammatory phenotypes and the underlying genetic causes in 125 families

2022-02-01

Abstract excerpt

<title>Abstract</title> <p>Monogenic autoinflammatory diseases (AID) encompass a growing group of inborn errors in the innate immune system causing unprovoked or exaggerated systemic inflammation. Diagnosis of monogenic AID requires an accurate description of the patients´ phenotype and the identification of highly penetrant genetic variants in single genes is pivotal. In a routine genetic diagnostic setting, we...

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Literature Corpus work: 1310a0cd-84f4-575d-9943-4aa6d5c0a0b6
DOI: 10.21203/rs.3.rs-1296021/v1

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