Case Report: A novel CXCR4 variant (p.S341Y) in a family with a pathogenic NFKB1 variant and variable clinical manifestations

Case Report: A novel CXCR4 variant (p.S341Y) in a family with a pathogenic NFKB1 variant and variable clinical manifestations

WHIM syndrome is typically caused by C-terminal gain-of-function variants in CXCR4, yet clinical heterogeneity suggests additional genetic modifiers. We investigated a family in which the 22-year-old proband harbored two heterozygous variants: a novel CXCR4 missense variant, c.1022C>A (p.S341...

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Main Authors: Melis Yilmaz, Katarina Zmajkovicova, Rahim Z. Miller, Grace Blair, Maryssa Ellison, Boglarka Ujhazi, Maria Chitty Lopez, Joseph F. Dasso, Jacob R. Bledsoe, Krisztian Csomos, Barbara Maierhofer, Adriana Badarau, Joao P. Pereira, Henry Kanarek, Christoph B. Geier, Jolan E. Walter
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-08-01
Series:Frontiers in Immunology
Subjects:
CXCR4
WHIM
NFKB1
neutropenia
CVID
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2025.1641122/full
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