Advancing Research, Clinical Recognition, and Targeted Therapies for WHIM Syndrome

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ORIGINAL RESEARCH

Published on 11 Nov 2024

CXCR4 antagonism ameliorates leukocyte abnormalities in a preclinical model of WHIM syndrome

Lilian Roland
Chi Huu Nguyen
Katarina Zmajkovicova
Mélanie Khamyath
Maria Kalogeraki
Bérénice Schell
Vanessa Gourhand
Vincent Rondeau
Zeina Abou Nader
5 more
Karl Balabanian

doi 10.3389/fimmu.2024.1468823

1,233 views
1 citation

ORIGINAL RESEARCH

Published on 07 Nov 2024

Heterogeneous phenotype of a Chinese Familial WHIM syndrome with CXCR4V340fs gain-of-function mutation

Yu Huang
Lu Li
Ran Chen
Lang Yu
Shunkai Zhao
Yanjun Jia
Ying Dou
Zhiyong Zhang
Yunfei An
2 more
Lina Zhou

doi 10.3389/fimmu.2024.1460990

892 views

MINI REVIEW

Published on 08 Jul 2024

Expanding CXCR4 variant landscape in WHIM syndrome: integrating clinical and functional data for variant interpretation

Katarina Zmajkovicova
Keith Nykamp
Grace Blair
Melis Yilmaz
Jolan E. Walter

doi 10.3389/fimmu.2024.1411141

2,053 views
2 citations

REVIEW

Published on 05 Jul 2024

The complex nature of CXCR4 mutations in WHIM syndrome

José Miguel Rodríguez-Frade
Luis Ignacio González-Granado
César A. Santiago
Mario Mellado

doi 10.3389/fimmu.2024.1406532

2,245 views
1 citation

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Frontiers in Immunology

Frontiers in Immunology

Primary Immunodeficiencies

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