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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 …
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 …
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.
METHODS: We have now retrospectively reviewed the birth and clinical histories of all known WHIM infants born after the implementation of NBS for SCID. RESULTS: We identified six infants with confirmed WHIM syndrome who also had TREC quantification on NBS. Three of …
METHODS: We have now retrospectively reviewed the birth and clinical histories of all known WHIM infants born after the implementation of NB …
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 …
Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients.
Geier CB, Ellison M, Cruz R, Pawar S, Leiss-Piller A, Zmajkovicova K, McNulty SM, Yilmaz M, Evans MO 2nd, Gordon S, Ujhazi B, Wiest I, Abolhassani H, Aghamohammadi A, Barmettler S, Bhar S, Bondarenko A, Bolyard AA, Buchbinder D, Cada M, Cavieres M, Connelly JA, Dale DC, Deordieva E, Dorsey MJ, Drysdale SB, Ehl S, Elfeky R, Fioredda F, Firkin F, Förster-Waldl E, Geng B, Goda V, Gonzalez-Granado L, Grunebaum E, Grzesk E, Henrickson SE, Hilfanova A, Hiwatari M, Imai C, Ip W, Jyonouchi S, Kanegane H, Kawahara Y, Khojah AM, Kim VH, Kojić M, Kołtan S, Krivan G, Langguth D, Lau YL, Leung D, Miano M, Mersyanova I, Mousallem T, Muskat M, Naoum FA, Noronha SA, Ouederni M, Ozono S, Richmond GW, Sakovich I, Salzer U, Schuetz C, Seeborg FO, Sharapova SO, Sockel K, Volokha A, von Bonin M, Warnatz K, Wegehaupt O, Weinberg GA, Wong KJ, Worth A, Yu H, Zharankova Y, Zhao X, Devlin L, Badarau A, Csomos K, Keszei M, Pereira J, Taveras AG, Beaussant-Cohen SL, Ong MS, Shcherbina A, Walter JE. Geier CB, et al. J Clin Immunol. 2022 Nov;42(8):1748-1765. doi: 10.1007/s10875-022-01312-7. Epub 2022 Aug 10. J Clin Immunol. 2022. PMID: 35947323 Free PMC article.
However, we report greater prevalence and variety of autoimmune complications of WHIM syndrome (21.2%) than reported previously. Patients with versus without family history of WHIM syndrome were diagnosed earlier (22%, average age 1.3 years vers …
However, we report greater prevalence and variety of autoimmune complications of WHIM syndrome (21.2%) than reported previousl …
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 …
Multicenter Experience of Hematopoietic Stem Cell Transplantation in WHIM Syndrome.
Laberko A, Deordieva E, Krivan G, Goda V, Bhar S, Kawahara Y, Rao K, Worth A, McDermott DH, Balashov D, Maschan A, Shcherbina A. Laberko A, et al. J Clin Immunol. 2022 Jan;42(1):171-182. doi: 10.1007/s10875-021-01155-8. Epub 2021 Oct 26. J Clin Immunol. 2022. PMID: 34697698 Free PMC article.
METHODS: To summarize current information on HSCT efficacy in disease treatment, seven pediatric patients with WHIM syndrome who underwent allogeneic HSCT were identified in five centers worldwide. ...CONCLUSION: HSCT in WHIM syndrome corrects neutrope …
METHODS: To summarize current information on HSCT efficacy in disease treatment, seven pediatric patients with WHIM syndrome w …
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. ...Recent evidence demonstrates tha …
An activating mutation in CXCR4 is responsible for a rare disease, WHIM syndrome (warts, hypogammaglobulinemia, infections, an …
Mechanisms of Sustained Neutrophilia in Patient WHIM-09, Cured of WHIM Syndrome by Chromothripsis.
Liu Q, Li Z, Y Yang A, Gao JL, S Velez D, J Cho E, McDermott DH, Murphy PM. Liu Q, et al. J Clin Immunol. 2018 Jan;38(1):77-87. doi: 10.1007/s10875-017-0457-8. Epub 2017 Nov 24. J Clin Immunol. 2018. PMID: 29177911 Free PMC article.
WHIM-09 is the first patient described with WHIM syndrome, an autosomal dominant form of neutropenia related to bone marrow retention of neutrophils. ...
WHIM-09 is the first patient described with WHIM syndrome, an autosomal dominant form of neutropenia related to bone marrow re …
Family studies of warts, hypogammaglobulinemia, immunodeficiency, myelokathexis syndrome.
Dale DC, Dick E, Kelley M, Makaryan V, Connelly J, Bolyard AA. Dale DC, et al. Curr Opin Hematol. 2020 Jan;27(1):11-17. doi: 10.1097/MOH.0000000000000554. Curr Opin Hematol. 2020. PMID: 31652152 Free PMC article.
PURPOSE OF REVIEW: WHIM syndrome (warts, hypogammaglobulinemia, immunodeficiency, myelokathexis, or WHIMs) is a very rare autosomal dominant immunodeficiency disorder attributable to mutations in CXCR4. ...Understanding the natural history and diversity of this synd …
PURPOSE OF REVIEW: WHIM syndrome (warts, hypogammaglobulinemia, immunodeficiency, myelokathexis, or WHIMs) is a very rare auto …
17 results