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WHIM syndrome: Immunopathogenesis, treatment and cure strategies
Author(s) -
McDermott David H.,
Murphy Philip M.
Publication year - 2019
Publication title -
immunological reviews
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.839
H-Index - 223
eISSN - 1600-065X
pISSN - 0105-2896
DOI - 10.1111/imr.12719
Subject(s) - hypogammaglobulinemia , cxcr4 , immunology , immune system , biology , disease , chemokine receptor , chemokine , immunodeficiency , primary immunodeficiency , medicine , antibody
Summary WHIM syndrome is a rare, autosomal dominant immunodeficiency which is named for the four key manifestations: Warts, Hypogammaglobulinemia, Infections, and Myelokathexis. It results from heterozygous gain‐of‐function mutations in the chemokine receptor CXCR 4 which is widely expressed on leukocytes and has profound influences on immune system homeostasis and organogenesis. New treatments for the disease using drugs to reduce CXCR 4 function are excellent examples of precision medicine. Since CXCR 4 and its ligand CXCL 12 play an important role in a variety of infectious, inflammatory, autoimmune, and malignant diseases, the study of WHIM syndrome provides important insights into both the physiologic and disease roles of these molecules.