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- W2904606410 endingPage "3" @default.
- W2904606410 startingPage "3" @default.
- W2904606410 abstract "Cysteine-X-cysteine chemokine receptor 4 (CXCR4) is a broadly expressed and multifunctional G protein-coupled chemokine receptor critical for organogenesis, hematopoiesis, and antimicrobial host defense. In the hematopoietic system, the binding of CXCR4 to its cognate chemokine ligand, CXCL12, mediates leukocyte trafficking, distribution, survival, activation, and proliferation. Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is a rare, autosomal dominant, combined immunodeficiency disorder caused by mutations in the C-terminus of CXCR4 that prevent receptor downregulation and therefore result in pathologically increased signaling. The “M” in the acronym WHIM refers to myelokathexis, the retention of neutrophils in the bone marrow resulting in neutropenia, which explains in part the increased susceptibility to bacterial infection. However, WHIM patients also present with B and T lymphopenia, which may explain the susceptibility to human papillomavirus (HPV), the cause of warts. The impact of WHIM mutations on lymphocytes and adaptive immunity has received less attention than myelokathexis and is the focus of this review." @default.
- W2904606410 created "2018-12-22" @default.
- W2904606410 creator A5038453259 @default.
- W2904606410 creator A5068107996 @default.
- W2904606410 date "2018-12-20" @default.
- W2904606410 modified "2023-09-25" @default.
- W2904606410 title "Adaptive Immunodeficiency in WHIM Syndrome" @default.
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