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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 by a he …
We initially described the WHIM syndrome based on the combination of Warts, Hypogammaglobulinaemia, Infections and Myelokathexis (neu …
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, plerixafor has s …
An activating mutation in CXCR4 is responsible for a rare disease, WHIM syndrome (warts, hypogammaglobulinemia, infections, and myelokath
Inhibitors of CXC chemokine receptor type 4: putative therapeutic approaches in inflammatory diseases.
Hummel S, Van Aken H, Zarbock A. Hummel S, et al. Curr Opin Hematol. 2014 Jan;21(1):29-36. doi: 10.1097/MOH.0000000000000002. Curr Opin Hematol. 2014. PMID: 24275689 Review.
The CXCL12/CXCR4 axis is also involved in several inflammatory processes and diseases including the WHIM (warts, hypogammaglobulinemia, infections and myelokathexis) syndrome, HIV, autoimmune disorders, ischemic injury, and pulmonary fibrosis. ...Several promising CXCR4 an …
The CXCL12/CXCR4 axis is also involved in several inflammatory processes and diseases including the WHIM (warts, hypogammaglobulinemia, infe …
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.
Myelokathexis is a kind of neutropenia caused by neutrophil retention in bone marrow and in WHIM syndrome is associated with lymphopenia and monocytopenia. ...The treatment order was randomized for each patient.RESULTSPlerixafor was nonsuperior to G-CSF for TISS (P
Myelokathexis is a kind of neutropenia caused by neutrophil retention in bone marrow and in WHIM syndrome is associated with lymphope
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.
Warts, Hypogammaglobulinemia, Infections and Myelokathexis (WHIM) is a primary immunodeficiency syndrome. Patients with WHIM syndrome are more susceptible to human papillomavirus (HPV) infections and commonly present to a dermatologist with recalcitrant to treatment warts. …
Warts, Hypogammaglobulinemia, Infections and Myelokathexis (WHIM) is a primary immunodeficiency syndrome. Patients with WHIM syndrome …
Concise Review: Perspectives and Clinical Implications of Bone Marrow and Circulating Stem Cell Defects in Diabetes.
Fadini GP, Ciciliot S, Albiero M. Fadini GP, et al. Stem Cells. 2017 Jan;35(1):106-116. doi: 10.1002/stem.2445. Epub 2016 Jul 11. Stem Cells. 2017. PMID: 27401837 Review.
It is being progressively recognized that such rare circulating cell populations mirror finely regulated processes involved in hematopoiesis, immunosurveillance, and peripheral tissue homeostasis. From a clinical perspective, pauperization of circulating stem cells predict …
It is being progressively recognized that such rare circulating cell populations mirror finely regulated processes involved in hematopoiesis …
Advances in basic and clinical immunology in 2009.
Chinen J, Shearer WT. Chinen J, et al. J Allergy Clin Immunol. 2010 Mar;125(3):563-8. doi: 10.1016/j.jaci.2010.01.022. J Allergy Clin Immunol. 2010. PMID: 20226292 Free PMC article. Review.
In 2009, reports on basic and clinical immunology had an increased focus on human disease mechanisms and management. The molecular pathogenesis of familial angioedema associated with estrogen was further explored to find possible factors affecting severity, including polym …
In 2009, reports on basic and clinical immunology had an increased focus on human disease mechanisms and management. The molecular pa …
Severe CD8+ T Lymphopenia in WHIM Syndrome Caused by Selective Sequestration in Primary Immune Organs.
Majumdar S, Pontejo SM, Jaiswal H, Gao JL, Salancy A, Stassenko E, Yamane H, McDermott DH, Balabanian K, Bachelerie F, Murphy PM. Majumdar S, et al. J Immunol. 2023 Jun 15;210(12):1913-1924. doi: 10.4049/jimmunol.2200871. J Immunol. 2023. PMID: 37133343 Free PMC article.
Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is an ultra-rare combined primary immunodeficiency disease caused by heterozygous gain-of-function mutations in the chemokine receptor CXCR4. WHIM patients typically present with recurrent acute in …
Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is an ultra-rare combined primary immunodeficiency diseas …
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. ...CONCLUSION: The results suggest that WHIM syndrome should be considered in the differential diagnosis of newborns with …
METHODS: We have now retrospectively reviewed the birth and clinical histories of all known WHIM infants born after the implementatio …
Clinical features of myelokathexis and treatment with hematopoietic cytokines: a case report of two patients and review of the literature.
Hord JD, Whitlock JA, Gay JC, Lukens JN. Hord JD, et al. J Pediatr Hematol Oncol. 1997 Sep-Oct;19(5):443-8. doi: 10.1097/00043426-199709000-00007. J Pediatr Hematol Oncol. 1997. PMID: 9329467 Review.
METHODS: The clinical features, granulocyte function, lymphocyte function, and response to granulocyte colony-stimulating factor (G-CSF) of two patients (mother/son) with myelokathexis were studied. This experience and 14 previous reports lead to a composite descrip …
METHODS: The clinical features, granulocyte function, lymphocyte function, and response to granulocyte colony-stimulating factor (G-C …
42 results