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Genomics Driving Diagnosis and Treatment of Inborn Errors of Immunity With Cancer Predisposition.

The journal of allergy and clinical immunology. In practice - 1 Jul 2022

Barmettler Sara, Sharapova Svetlana O, Milota Tomas, Greif Philipp A, Magg Thomas, Hauck Fabian

Abstract excerpt

Inborn errors of immunity (IEI) are genetically and clinically heterogeneous disorders that, in addition to infection susceptibility and immune dysregulation, can have an enhanced cancer predisposition. The increasing availability of upfront next-generation sequencing diagnostics in immunology and oncology have uncovered substantial overlap of germline and somatic genetic conditions that can result in...

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PMID: 35364342
DOI: 10.1016/j.jaip.2022.03.012

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