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Somatic hypermutation defects in two adult hyper immunoglobulin M patients.

Immunologic research - 1 Dec 2022

Yilmaz Hülya, Fırtına Sinem, Sarıtaş Merve, Sayitoğlu Müge, Ar Muhlis Cem

Abstract excerpt

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 biallelic 11 base pair deletion...

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PMID: 35879489
DOI: 10.1007/s12026-022-09310-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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