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Journal Abstract Search

556 related items for PubMed ID: 12692554

  • 1. Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease.
    Hernandez PA, Gorlin RJ, Lukens JN, Taniuchi S, Bohinjec J, Francois F, Klotman ME, Diaz GA.
    Nat Genet; 2003 May; 34(1):70-4. PubMed ID: 12692554
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  • 3. CXCR4 mutations in WHIM syndrome: a misguided immune system?
    Diaz GA.
    Immunol Rev; 2005 Feb; 203():235-43. PubMed ID: 15661033
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  • 6. Sporadic case of warts, hypogammaglobulinemia, immunodeficiency, and myelokathexis syndrome.
    Tarzi MD, Jenner M, Hattotuwa K, Faruqi AZ, Diaz GA, Longhurst HJ.
    J Allergy Clin Immunol; 2005 Nov; 116(5):1101-5. PubMed ID: 16275383
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  • 7. WHIM syndrome caused by a single amino acid substitution in the carboxy-tail of chemokine receptor CXCR4.
    Liu Q, Chen H, Ojode T, Gao X, Anaya-O'Brien S, Turner NA, Ulrick J, DeCastro R, Kelly C, Cardones AR, Gold SH, Hwang EI, Wechsler DS, Malech HL, Murphy PM, McDermott DH.
    Blood; 2012 Jul 05; 120(1):181-9. PubMed ID: 22596258
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  • 8. Clinical and genetic features of Warts, Hypogammaglobulinemia, Infections and Myelokathexis (WHIM) syndrome.
    Dotta L, Tassone L, Badolato R.
    Curr Mol Med; 2011 Jun 05; 11(4):317-25. PubMed ID: 21506920
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  • 10. WHIM Syndrome Caused by Waldenström's Macroglobulinemia-Associated Mutation CXCR4 (L329fs).
    Liu Q, Pan C, Lopez L, Gao J, Velez D, Anaya-O'Brien S, Ulrick J, Littel P, Corns JS, Ellenburg DT, Malech HL, Murphy PM, McDermott DH.
    J Clin Immunol; 2016 May 05; 36(4):397-405. PubMed ID: 27059040
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  • 11. CXCL12/CXCR4-axis dysfunctions: Markers of the rare immunodeficiency disorder WHIM syndrome.
    Bachelerie F.
    Dis Markers; 2010 May 05; 29(3-4):189-98. PubMed ID: 21178277
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  • 13. [WHIM syndrome: presumptive diagnosis based on myelokathexis on bone marrow smear].
    Bock I, Dugué F, Loppinet E, Bellanné-Chantelot C, Bénet B.
    Ann Biol Clin (Paris); 2014 May 05; 72(1):111-9. PubMed ID: 24492099
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  • 14. Altered leukocyte response to CXCL12 in patients with warts hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome.
    Gulino AV, Moratto D, Sozzani S, Cavadini P, Otero K, Tassone L, Imberti L, Pirovano S, Notarangelo LD, Soresina R, Mazzolari E, Nelson DL, Notarangelo LD, Badolato R.
    Blood; 2004 Jul 15; 104(2):444-52. PubMed ID: 15026312
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  • 16. The role of a mutation of the CXCR4 gene in WHIM syndrome.
    Taniuchi S, Masuda M, Fujii Y, Izawa K, Kanegane H, Kobayashi Y.
    Haematologica; 2005 Sep 15; 90(9):1271-2. PubMed ID: 16154852
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  • 17. 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, 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.
    J Clin Immunol; 2022 Nov 15; 42(8):1748-1765. PubMed ID: 35947323
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  • 18. Oligoclonality, impaired class switch and B-cell memory responses in WHIM syndrome.
    Mc Guire PJ, Cunningham-Rundles C, Ochs H, Diaz GA.
    Clin Immunol; 2010 Jun 15; 135(3):412-21. PubMed ID: 20226738
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  • 19. 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.
    J Pharmacol Exp Ther; 2017 Oct 15; 363(1):35-44. PubMed ID: 28768817
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  • 20. Expanding CXCR4 variant landscape in WHIM syndrome: integrating clinical and functional data for variant interpretation.
    Zmajkovicova K, Nykamp K, Blair G, Yilmaz M, Walter JE.
    Front Immunol; 2024 Oct 15; 15():1411141. PubMed ID: 39040098
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