Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
2009 1
2010 2
2011 2
2013 3
2014 1
2015 1
2018 3
2019 3
2020 1
2022 1
2023 2
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

20 results

Results by year

Filters applied: . Clear all
Page 1
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 …
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 …
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 …
[WHIM syndrome: a case report and literature review].
Chen XJ, Yang WY, Wang SC, Guo Y, Liu F, Qi BQ, Chang LX, Zhou JF, An WB, Wei W, Wan Y, Zhu XF. Chen XJ, et al. Zhonghua Er Ke Za Zhi. 2013 Mar;51(3):178-82. Zhonghua Er Ke Za Zhi. 2013. PMID: 23751577 Review. Chinese.
OBJECTIVE: To study the clinical and laboratory characteristics of cases with warts, hypogammaglobulinemia, infections and myelokathexis (WHIM) syndrome. METHOD: An 11-year-old boy was diagnosed as WHIM syndrome and CXCR4 gene mutation analysis was per …
OBJECTIVE: To study the clinical and laboratory characteristics of cases with warts, hypogammaglobulinemia, infections and myelokathexis ( …
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; …
[Dysfunctions of the CXCL12 (SDF-1)/CXCR4 signaling axis in the WHIM syndrome and the idiopathic CD4(+) T-cell lymphocytopenia].
Biajoux V, Bignon A, Bouchet-Delbos L, Emilie D, Balabanian K. Biajoux V, et al. Biol Aujourdhui. 2010;204(4):273-84. doi: 10.1051/jbio/2010022. Epub 2011 Jan 10. Biol Aujourdhui. 2010. PMID: 21215244 Review. French.
They mediate their functions by binding to and activating chemokine receptors, which belong to the heptahelical G protein-coupled receptor family. The CXC chemokine Stromal cell Derived Factor-1 (SDF-1/CXCL12) is the sole natural ligand for the broadly expressed CXC …
They mediate their functions by binding to and activating chemokine receptors, which belong to the heptahelical G protein-coupled receptor f …
20 results