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Page 1
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.
Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome (WS) is a combined immunodeficiency caused by gain-of-function mutations in the C-X-C chemokine receptor type 4 (CXCR4) gene. ...Patients with a family history of WHIM s …
Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome (WS) is a combined immunodefi …
Tetralogy of fallot is an uncommon manifestation of warts, hypogammaglobulinemia, infections, and myelokathexis syndrome.
Badolato R, Dotta L, Tassone L, Amendola G, Porta F, Locatelli F, Notarangelo LD, Bertrand Y, Bachelerie F, Donadieu J. Badolato R, et al. J Pediatr. 2012 Oct;161(4):763-5. doi: 10.1016/j.jpeds.2012.05.058. Epub 2012 Jun 27. J Pediatr. 2012. PMID: 22748845 Free PMC article.
Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is a rare immunodeficiency disorder. We report three patients with WHIM syndrome who are affected by Tetralogy of Fallot (TOF). This observation suggests a possib …
Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is a rare immunodeficiency di …
Vedolizumab for children with intestinal graft-versus-host disease: a case report and literature review.
Fukuta T, Muramatsu H, Yamashita D, Sajiki D, Maemura R, Tsumura Y, Yamamori A, Imaya M, Wakamatsu M, Nishikawa E, Narita K, Kataoka S, Taniguchi R, Narita A, Nishio N, Takahashi Y. Fukuta T, et al. Int J Hematol. 2023 Sep;118(3):411-417. doi: 10.1007/s12185-023-03590-2. Epub 2023 Apr 19. Int J Hematol. 2023. PMID: 37074509 Review.
We report the case of a male patient with intestinal late-onset aGVHD treated with vedolizumab. He underwent allogeneic cord blood transplantation for warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome and developed inte …
We report the case of a male patient with intestinal late-onset aGVHD treated with vedolizumab. He underwent allogeneic cord blood transplan …
Effect of the CXCR4 antagonist plerixafor on endogenous neutrophil dynamics in the bone marrow, lung and spleen.
Pillay J, Tregay N, Juzenaite G, Carlin LM, Pirillo C, Gaboriau DCA, Farahi N, Summers C, Lo Celso C, Chilvers ER, Rankin S, De Filippo K. Pillay J, et al. J Leukoc Biol. 2020 Jun;107(6):1175-1185. doi: 10.1002/JLB.1MA0420-571RR. Epub 2020 May 6. J Leukoc Biol. 2020. PMID: 32374077 Free article.
Treatment with the CXCR4 antagonist, plerixafor (AMD3100), has been proposed for clinical use in patients with WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome and in pulmonary fibrosis. ...In this study, we investigat …
Treatment with the CXCR4 antagonist, plerixafor (AMD3100), has been proposed for clinical use in patients with WHIM (warts, hypoga …
WHIM syndrome: a defect in CXCR4 signaling.
Diaz GA, Gulino AV. Diaz GA, et al. Curr Allergy Asthma Rep. 2005 Sep;5(5):350-5. doi: 10.1007/s11882-005-0005-0. Curr Allergy Asthma Rep. 2005. PMID: 16091205 Review.
The first example of a human immunologic disease caused by mutation of a chemokine receptor was provided by WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome, a rare, combined immunodeficiency featuring an unusual form …
The first example of a human immunologic disease caused by mutation of a chemokine receptor was provided by WHIM (warts, hypogamma …
Somatic mutations in MYD88 and CXCR4 are determinants of clinical presentation and overall survival in Waldenstrom macroglobulinemia.
Treon SP, Cao Y, Xu L, Yang G, Liu X, Hunter ZR. Treon SP, et al. Blood. 2014 May 1;123(18):2791-6. doi: 10.1182/blood-2014-01-550905. Epub 2014 Feb 19. Blood. 2014. PMID: 24553177 Free article.
CXCR4 somatic mutations in WM are the first ever reported in human cancer and are similar to nonsense (NS) and frameshift (FS) germline mutations found in warts, hypogammaglobulinemia, infections and myelokathexis (WHIM) syndrome. We genotyped l …
CXCR4 somatic mutations in WM are the first ever reported in human cancer and are similar to nonsense (NS) and frameshift (FS) germline muta …
Low-level Cxcr4-haploinsufficient HSC engraftment is sufficient to correct leukopenia in WHIM syndrome mice.
Gao JL, Owusu-Ansah A, Paun A, Beacht K, Yim E, Siwicki M, Yang A, Liu Q, McDermott DH, Murphy PM. Gao JL, et al. JCI Insight. 2019 Dec 19;4(24):e132140. doi: 10.1172/jci.insight.132140. JCI Insight. 2019. PMID: 31687976 Free PMC article.
Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome immunodeficiency is caused by autosomal dominant gain-of-function mutations in chemokine receptor CXCR4. ...We now report graded-dose competitive transplantation experim …
Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome immunodeficiency is caused by …
Long-Term Outcome of WHIM Syndrome in 18 Patients: High Risk of Lung Disease and HPV-Related Malignancies.
Dotta L, Notarangelo LD, Moratto D, Kumar R, Porta F, Soresina A, Lougaris V, Plebani A, Smith CIE, Norlin AC, Gòmez Raccio AC, Bubanska E, Bertolini P, Amendola G, Visentini M, Fiorilli M, Venuti A, Badolato R. Dotta L, et al. J Allergy Clin Immunol Pract. 2019 May-Jun;7(5):1568-1577. doi: 10.1016/j.jaip.2019.01.045. Epub 2019 Feb 2. J Allergy Clin Immunol Pract. 2019. PMID: 30716504
BACKGROUND: In the warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome, variable phenotypic expression may delay diagnosis. ...Skin warts were observed in 61% of patients at a mean age of 11 years, whereas human pa …
BACKGROUND: In the warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome, variable …
A phase 1 clinical trial of long-term, low-dose treatment of WHIM syndrome with the CXCR4 antagonist plerixafor.
McDermott DH, Liu Q, Velez D, Lopez L, Anaya-O'Brien S, Ulrick J, Kwatemaa N, Starling J, Fleisher TA, Priel DA, Merideth MA, Giuntoli RL, Evbuomwan MO, Littel P, Marquesen MM, Hilligoss D, DeCastro R, Grimes GJ, Hwang ST, Pittaluga S, Calvo KR, Stratton P, Cowen EW, Kuhns DB, Malech HL, Murphy PM. McDermott DH, et al. Blood. 2014 Apr 10;123(15):2308-16. doi: 10.1182/blood-2013-09-527226. Epub 2014 Feb 12. Blood. 2014. PMID: 24523241 Free PMC article. Clinical Trial.
Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is a rare immunodeficiency disorder caused by gain-of-function mutations in the G protein-coupled chemokine receptor CXCR4. ...Circulating leukocytes were durably increa …
Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is a rare immunodeficiency di …
Novel role for NFAT3 in ERK-mediated regulation of CXCR4.
Huang K, Kiefer C, Kamal A. Huang K, et al. PLoS One. 2014 Dec 16;9(12):e115249. doi: 10.1371/journal.pone.0115249. eCollection 2014. PLoS One. 2014. PMID: 25514788 Free PMC article.
The G-protein coupled chemokine (C-X-C motif) receptor CXCR4 is linked to cancer, HIV, and WHIM (Warts, Hypogammaglobulinemia, Infections, and Myelokathexis) syndrome. While CXCR4 is reported to be overexpressed in multiple human cancer types an …
The G-protein coupled chemokine (C-X-C motif) receptor CXCR4 is linked to cancer, HIV, and WHIM (Warts, Hypogammaglobulinemia, …
14 results