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Page 1
WHIM syndrome: Immunopathogenesis, treatment and cure strategies.
McDermott DH, Murphy PM. McDermott DH, et al. Immunol Rev. 2019 Jan;287(1):91-102. doi: 10.1111/imr.12719. Immunol Rev. 2019. PMID: 30565238 Review.
WHIM syndrome is a rare, autosomal dominant immunodeficiency which is named for the four key manifestations: Warts, Hypogammaglobulinemia, Infections, and Myelokathexis. ...Since CXCR4 and its ligand CXCL12 play an important role in a variety of infectious, inflamma …
WHIM syndrome is a rare, autosomal dominant immunodeficiency which is named for the four key manifestations: Warts, Hypogammag …
WHIM Syndrome: from Pathogenesis Towards Personalized Medicine and Cure.
Heusinkveld LE, Majumdar S, Gao JL, McDermott DH, Murphy PM. Heusinkveld LE, et al. J Clin Immunol. 2019 Aug;39(6):532-556. doi: 10.1007/s10875-019-00665-w. Epub 2019 Jul 16. J Clin Immunol. 2019. PMID: 31313072 Free PMC article. Review.
WHIM syndrome is a rare combined primary immunodeficiency disease named by acronym for the diagnostic tetrad of warts, hypogammaglobulinemia, infections, and myelokathexis. ...Accordingly, CXCR4 antagonists have shown promise as mechanism-based treatments in phase …
WHIM syndrome is a rare combined primary immunodeficiency disease named by acronym for the diagnostic tetrad of warts, hypogam …
Genetics on a WHIM.
Al Ustwani O, Kurzrock R, Wetzler M. Al Ustwani O, et al. Br J Haematol. 2014 Jan;164(1):15-23. doi: 10.1111/bjh.12574. Epub 2013 Sep 20. Br J Haematol. 2014. PMID: 24111611 Free PMC article. Review.
We initially described the WHIM syndrome based on the combination of Warts, Hypogammaglobulinaemia, Infections and Myelokathexis (neutrophil retention in the bone marrow). Translational research led to the discovery that this rare immunodeficiency disease is caused …
We initially described the WHIM syndrome based on the combination of Warts, Hypogammaglobulinaemia, Infections and Myelokathex …
Adaptive Immunodeficiency in WHIM Syndrome.
Majumdar S, Murphy PM. Majumdar S, et al. Int J Mol Sci. 2018 Dec 20;20(1):3. doi: 10.3390/ijms20010003. Int J Mol Sci. 2018. PMID: 30577453 Free PMC article. Review.
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 i …
Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is a rare, autosomal dominant, combined immunodefi …
Clinical and genetic features of Warts, Hypogammaglobulinemia, Infections and Myelokathexis (WHIM) syndrome.
Dotta L, Tassone L, Badolato R. Dotta L, et al. Curr Mol Med. 2011 Jun;11(4):317-25. doi: 10.2174/156652411795677963. Curr Mol Med. 2011. PMID: 21506920 Review.
WHIM syndrome is a dominantly inherited primary immunodeficiency disorder representing the first identified example of human disease caused by mutations in the gene encoding for the chemokine receptor CXCR4. ...In the majority of patients, the phenotype is incomplet …
WHIM syndrome is a dominantly inherited primary immunodeficiency disorder representing the first identified example of human d …
Multisystem multitasking by CXCL12 and its receptors CXCR4 and ACKR3.
Murphy PM, Heusinkveld L. Murphy PM, et al. Cytokine. 2018 Sep;109:2-10. doi: 10.1016/j.cyto.2017.12.022. Epub 2018 Feb 15. Cytokine. 2018. PMID: 29398278 Free PMC article. Review.
The broad importance of CXCL12 is revealed by the complex lethal developmental phenotypes in mice lacking either Cxcl12 or either one of its two known 7-transmembrane domain receptors Cxcr4 and Ackr3, as well as by gain-of-function mutations in human CXCR4, which cause WHIM …
The broad importance of CXCL12 is revealed by the complex lethal developmental phenotypes in mice lacking either Cxcl12 or either one of its …
Small molecule inhibitors of CXCR4.
Debnath B, Xu S, Grande F, Garofalo A, Neamati N. Debnath B, et al. Theranostics. 2013;3(1):47-75. doi: 10.7150/thno.5376. Epub 2013 Jan 15. Theranostics. 2013. PMID: 23382786 Free PMC article. Review.
CXCR4 is a G-protein-coupled receptor involved in a number of physiological processes in the hematopoietic and immune systems. The SDF-1/CXCR4 axis is significantly associated with several diseases, such as HIV, cancer, WHIM syndrome, rheumatoid arthritis, pu …
CXCR4 is a G-protein-coupled receptor involved in a number of physiological processes in the hematopoietic and immune systems. The SDF-1 …
Plerixafor on a WHIM - Promise or Fantasy of a New CXCR4 Inhibitor for This Rare, but Important Syndrome?
Merati N, Sivachandran S, Jfri A, Ben-Shoshan M, Vinh DC, Popradi G, Litvinov IV. Merati N, et al. Skin Therapy Lett. 2022 Mar;27(2):1-5. Skin Therapy Lett. 2022. PMID: 35385630 Free article. Review.
Warts, Hypogammaglobulinemia, Infections and Myelokathexis (WHIM) is a primary immunodeficiency syndrome. Patients with WHIM syndrome are more susceptible to human papillomavirus (HPV) infections and commonly present to a dermatologist with recalcitrant to treatment …
Warts, Hypogammaglobulinemia, Infections and Myelokathexis (WHIM) is a primary immunodeficiency syndrome. Patients with WHIM syndr …
CXCR4 antagonist AMD3100 (plerixafor): From an impurity to a therapeutic agent.
Wang J, Tannous BA, Poznansky MC, Chen H. Wang J, et al. Pharmacol Res. 2020 Sep;159:105010. doi: 10.1016/j.phrs.2020.105010. Epub 2020 Jun 13. Pharmacol Res. 2020. PMID: 32544428 Review.
The CXCL12/CXCR4 axis and its signaling pathways are involved in diverse disorders including HIV-1 infection, tumor development, non-Hodgkin lymphoma, multiple myeloma, WHIM Syndrome, and so on. The mechanisms of action of AMD3100 may relate to mobilizing hem …
The CXCL12/CXCR4 axis and its signaling pathways are involved in diverse disorders including HIV-1 infection, tumor development, non- …
New and old immunodeficiencies.
Stiehm ER. Stiehm ER. Pediatr Res. 1993 Jan;33(1 Suppl):S2-7; discussion S7-8. doi: 10.1203/00006450-199305001-00007. Pediatr Res. 1993. PMID: 8433870 Review.
Today's immunodeficiencies, as detailed in Stiehm's Immunologic Disorders in Infants and Children (Edition 1, 1973; Edition 2, 1980; and Edition 3, 1989) emphasize the immunologic and genetic aspects of immunodeficiency. ...Tomorrow's immunodeficiencies, to be covered in E …
Today's immunodeficiencies, as detailed in Stiehm's Immunologic Disorders in Infants and Children (Edition 1, 1973; Edition 2, 1980; …
19 results