Allelic bias contributes to heterogeneous phenotypes of NK cell deficiency

Allelic bias contributes to heterogeneous phenotypes of NK cell deficiency

Summary: While monogenic variants in CDC45-MCM-GINS (CMG) replisome proteins cause human natural killer cell deficiencies (NKDs), family members with the same inherited variants often have variable clinical and cellular phenotypes. We investigated two siblings with inherited compound heterozygous GI...

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Main Authors: Seungmae Seo, Yong-Oon Ahn, Sagar L. Patil, Jacqueline Armetta, Madrikha D. Saturne, Everardo Hegewisch-Solloa, Nicole C. Guilz, Achchhe Patel, Barbara Corneo, Malgorzata Borowiak, Emily M. Mace
Format: Article
Language:English
Published: Elsevier 2025-08-01
Series:Cell Reports
Subjects:
CP: Immunology
Online Access:http://www.sciencedirect.com/science/article/pii/S2211124725008733
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http://www.sciencedirect.com/science/article/pii/S2211124725008733

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