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

Warts, Hypogammaglobulinemia, Infections, Myelokathexis (WHIM) syndrome is a rare, combined immunodeficiency disease predominantly caused by gain-of-function variants in the

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Copyright © 2024 Zmajkovicova, Nykamp, Blair, Yilmaz and Walter.

Déclaration de conflit d'intérêts

X4 Pharmaceuticals funded the development of the article. KZ is a current employee and has equity ownership of X4 Pharmaceuticals and was involved in conceptualization, investigation, data curation, methodology, and figure design. KN is a current employee and stockholder of Invitae Corporation. GB reports no conflicts of interest. MY receives funding from X4 Pharmaceuticals for research efforts on WHIM syndrome. JW is a consultant for Takeda, X4 Pharmaceuticals, Grifols, ADMA Biologicals, Enzyvant, Regeneron, and Pharming; receives research funding from Takeda, Janssen, Chiesi, ADMA Biologicals, Octapharma, X4 Pharmaceuticals, Novartis, Regeneron, Bristol-Myers Squibb; and is part of a speaker’s bureau for Pharming. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be constructed as a potential conflict of interest.