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Article

Precision Medicine in the Treatment of Primary Immune Deficiency Patients With Disorders of Immune Dysregulation.

Clinical reviews in allergy & immunology - 1 Aug 2022

Ballow Mark, Leiding Jennifer W

Abstract excerpt

There are now more than 450 described monogenic germline mutations for inborn errors of immunity that result in the loss of expression, loss of function (LOF), or gain in function (GOF) of the encoded protein. Molecular characterization of these inborn errors of immunity has not only allowed us to characterize on a genetic basis these immune deficiency disorders but has provided a better understanding of the...

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PMID: 34169440
DOI: 10.1007/s12016-021-08871-4

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