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Quoted phrase not found in phrase index: "WHIM syndrome 1"
Page 1
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 …
TREC Screening for WHIM Syndrome.
Evans MO 2nd, Petersen MM, Khojah A, Jyonouchi SC, Edwardson GS, Khan YW, Connelly JA, Morris D, Majumdar S, McDermott DH, Walter JE, Murphy PM. Evans MO 2nd, et al. J Clin Immunol. 2021 Apr;41(3):621-628. doi: 10.1007/s10875-020-00921-4. Epub 2021 Jan 7. J Clin Immunol. 2021. PMID: 33415666 Free PMC article.
RESULTS: We identified six infants with confirmed WHIM syndrome who also had TREC quantification on NBS. Three of the six WHIM infants had low TREC levels on NBS. All six patients were lymphopenic but only one infant had a T cell count below 1,500 cells/muL. …
RESULTS: We identified six infants with confirmed WHIM syndrome who also had TREC quantification on NBS. Three of the six WHIM …
A phase III randomized crossover trial of plerixafor versus G-CSF for treatment of WHIM syndrome.
McDermott DH, Velez D, Cho E, Cowen EW, DiGiovanna JJ, Pastrana DV, Buck CB, Calvo KR, Gardner PJ, Rosenzweig SD, Stratton P, Merideth MA, Kim HJ, Brewer C, Katz JD, Kuhns DB, Malech HL, Follmann D, Fay MP, Murphy PM. McDermott DH, et al. J Clin Invest. 2023 Oct 2;133(19):e164918. doi: 10.1172/JCI164918. J Clin Invest. 2023. PMID: 37561579 Free PMC article. Clinical Trial.
BACKGROUNDWarts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is a primary immunodeficiency disorder caused by heterozygous gain-of-function CXCR4 mutations. ...Together with wart regression and hematologic improvement, the infection severity …
BACKGROUNDWarts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is a primary immunodeficiency disorder c …
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 …
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. ...Among those, we highlight the perspective of AMD3100 as an im …
The CXCL12/CXCR4 axis and its signaling pathways are involved in diverse disorders including HIV-1 infection, tumor development, non- …
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.
Other cardinal features of WHIM syndrome include recurrent sinopulmonary bacterial infections, neutropenia/lymphopenia, low levels of immunoglobulins (IgG, IgA, IgM) and myelokathexis. ...Plerixafor, a specific small molecule antagonist of CXCR4, is currently used f …
Other cardinal features of WHIM syndrome include recurrent sinopulmonary bacterial infections, neutropenia/lymphopenia, low le …
Molecular Pathways: Targeting the CXCR4-CXCL12 Axis--Untapped Potential in the Tumor Microenvironment.
Scala S. Scala S. Clin Cancer Res. 2015 Oct 1;21(19):4278-85. doi: 10.1158/1078-0432.CCR-14-0914. Epub 2015 Jul 21. Clin Cancer Res. 2015. PMID: 26199389 Review.
An activating mutation in CXCR4 is responsible for a rare disease, WHIM syndrome (warts, hypogammaglobulinemia, infections, and myelokathexis), and dominant CXCR4 mutations have also been reported in Waldenstrom macroglobulinemia. ...In preclinical models, plerixafo …
An activating mutation in CXCR4 is responsible for a rare disease, WHIM syndrome (warts, hypogammaglobulinemia, infections, an …
Mozobil® (Plerixafor, AMD3100), 10 years after its approval by the US Food and Drug Administration.
De Clercq E. De Clercq E. Antivir Chem Chemother. 2019 Jan-Dec;27:2040206619829382. doi: 10.1177/2040206619829382. Antivir Chem Chemother. 2019. PMID: 30776910 Free PMC article. Review.
Through interference with the interaction of CXCR4 with its natural ligand, SDF-1 (also named CXCL12), it also mobilized the CD34(+)stem cells from the bone marrow into the peripheral blood stream. ...It may be beneficially used in various other malignant diseases as well …
Through interference with the interaction of CXCR4 with its natural ligand, SDF-1 (also named CXCL12), it also mobilized the CD34(+)s …
CXCR4-Specific Nanobodies as Potential Therapeutics for WHIM syndrome.
de Wit RH, Heukers R, Brink HJ, Arsova A, Maussang D, Cutolo P, Strubbe B, Vischer HF, Bachelerie F, Smit MJ. de Wit RH, et al. J Pharmacol Exp Ther. 2017 Oct;363(1):35-44. doi: 10.1124/jpet.117.242735. Epub 2017 Aug 2. J Pharmacol Exp Ther. 2017. PMID: 28768817
WHIM syndrome is a rare congenital immunodeficiency disease, named after its main clinical manifestations: warts, hypogammaglobulinemia, infections, and myelokathexis, which refers to abnormal accumulation of mature neutrophils in the bone marrow. ...Based on …
WHIM syndrome is a rare congenital immunodeficiency disease, named after its main clinical manifestations: warts, hypog …
A case of WHIM syndrome associated with diabetes and hypothyroidism.
Takaya J, Fujii Y, Higashino H, Taniuchi S, Nakamura M, Kaneko K. Takaya J, et al. Pediatr Diabetes. 2009 Nov;10(7):484-6. doi: 10.1111/j.1399-5448.2009.00503.x. Epub 2009 May 19. Pediatr Diabetes. 2009. PMID: 19476565
The WHIM syndrome is a rare immunological disorder characterized by warts, hypogammaglobulinemia, infections, and myelokathexis. We hypothesized that immunological or genetic mechanisms may link WHIM syndrome and type 1 diabetes. We report that …
The WHIM syndrome is a rare immunological disorder characterized by warts, hypogammaglobulinemia, infections, and myelokathexi …
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