Unveiling WHIM syndrome: Mavorixafor's emerging role in immune restoration and therapy

Abstract

WHIM syndrome is a rare autosomal dominant immunodeficiency disorder and is an abbreviation formed from the initial letters of its main clinical presentations: Warts, Hypogammaglobulinemia, Infections, and Myelokathexis. It stems mainly from mutations where there is a gain of function in the chemokine receptor CXCR4, which is extensively located on leukocytes and significantly affects the balance of the immune system. Many therapeutic strategies have been widely explored for several years for this immunodeficiency disorder. Mavorixafor, a CXCR4 antagonist, is a recently approved drug by the Food and Drug Administration (FDA) that is being studied for its longer half-life and oral drug route against WHIM syndrome. This review aims to investigate briefly the underlying mechanisms and pathogenesis of WHIM syndrome, and the current effective treatment approaches, for example CXCR4 antagonists or Hematopoietic Stem Cell Transplantation (HSCT), against it. The review also aims to thoroughly assess the efficacy and safety of Mavorixafor in managing WHIM syndrome, exploring its pharmacokinetics, pharmacodynamics, dosing regimens, and safety. Finally, we also investigate important additional therapeutic uses of Mavorixafor.

Keywords: CXCR4 antagonist; Mavorixafor; WHIM syndrome; efficacy; safety.