Article

Somatic Hypermutation Defects in Two Adult Hyper Immunoglobulin M Patients

2021-10-20

Abstract excerpt

<title>Abstract</title> <p>Hyper immunoglobulin M (HIGM) syndrome is a rare disorder of the immune system with impaired antibody functions. The clinical picture of the patients varies according to the underlying genetic variation. In this study, we identified two novel variants in AID and UNG genes, which are associated with autosomal recessive type HIGM, by targeted next generation sequencing (NGS) panel. A bial...

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Literature Corpus work: d58f45a4-fdb4-5f66-97ea-ef962c56da5d
DOI: 10.21203/rs.3.rs-958379/v1

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