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References

An analysis of studies on “WHIM Syndrome” published from 1990-2019 was conducted in October 2020. Please see below for the full references.

  • Dale, David C., et al. “Results of a phase 2 trial of an oral CXCR4 antagonist, mavorixafor, for treatment of WHIM syndrome.” Blood 2020; 136 (26): 2994–3003. https://doi.org/10.1182/blood.2020007197. Accessed 22 Oct. 2020.
  • Bies, Joshua J., et al. “Successful Allogeneic HCT for WHIM Unexpectedly Complicated by Hypersensitivity Pneumonitis.” Biology of Blood and Marrow Transplantation, vol. 25, no. 3, 2019, https://doi.org/10.1016/j.bbmt.2018.12.646. Accessed 22 Oct. 2020.
  • Buchbinder, David, et al. “Rubella Virus-Associated Cutaneous Granulomatous Disease: A Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders.” Journal of Clinical Immunology, vol. 39, no. 1, Jan. 2019, pp. 81–89., https://doi.org/10.1007/s10875-018-0581-0. Accessed 22 Oct. 2020.
  • Dotta, Laura, et al. “Long-Term Outcome of WHIM Syndrome in 18 Patients: High Risk of Lung Disease and HPV-Related Malignancies.” The Journal of Allergy and Clinical Immunology: In Practice, vol. 7, no. 5, Feb. 2019, pp. 1568–1577.,
    https://doi.org/10.1016/j.jaip.2019.01.045. Accessed 22 Oct. 2020.
  • Evans, Martin O., et al. “Abnormal Newborn Screen in a WHIM Syndrome Infant.” Journal of Clinical Immunology, vol. 39, no. 8, 1 Nov. 2019, pp. 839–841., https://doi.org/10.1007/s10875-019-00686-5. Accessed 22 Oct. 2020.
  • Galli, Jessica, et al. “Cerebellar Involvement in Warts Hypogammaglobulinemia Immunodeficiency Myelokathexis Patients: Neuroimaging and Clinical Findings.” Orphanet Journal of Rare Diseases, vol. 14, no. 1, Feb. 2019,
    https://doi.org/10.1186/s13023-019-1030-8. Accessed 22 Oct. 2020.
  • McDermott, David H., et al. “Case Report: Ocular Toxoplasmosis in a WHIM Syndrome Immunodeficiency Patient.” F1000Research, vol. 8, Jan. 2019, p. 2., https://doi.org/10.12688/f1000research.16825.2. Accessed 22 Oct. 2020.
  • McDermott, David H., et al. “Plerixafor for the Treatment of WHIM Syndrome.” New England Journal of Medicine, vol. 380, no. 2, 10 Jan. 2019, pp. 163–170., https://doi.org/10.1056/nejmoa1808575. Accessed 22 Oct. 2020.
  • Moiseeva, A., and Y. Rodina. “Clinical Features and Immunological Defects in a Group of Russian Patients with WHIM Syndrome.” Poster presentation at European Society for Immunodeficiencies Conference. 2019.
  • Zhang, Aoli, et al. “Acute Myeloid Leukemia Arising after Hodgkin Lymphoma in a Patient with WHIM Syndrome.” Pediatric Blood & Cancer, vol. 66, no. 11, July 2019, https://doi.org/10.1002/pbc.27951. Accessed 22 Oct. 2020.
  • Kawahara, Yuta, et al. “Transient Marked Increase of Γδ T Cells in WHIM Syndrome after Successful HSCT.” Journal of Clinical Immunology, vol. 38, no. 5, July 2018, pp. 553–555., https://doi.org/10.1007/s10875-018-0529-4. Accessed 22 Oct. 2020.
  • Liu, Qian, et al. “Mechanisms of Sustained Neutrophilia in Patient WHIM-09, Cured of WHIM Syndrome by Chromothripsis.” Journal of Clinical Immunology, vol. 38, no. 1, Jan. 2018, pp. 77–87., https://doi.org/10.1007/s10875-017-0457-8. Accessed 22 Oct. 2020.
  • Paolini, María V., et al. “Diagnóstico Tardío De Síndrome WHIM.” [Late diagnosis of WHIM syndrome]. Medicina , vol. 78, no. 2, Mar. 2018, pp. 123–126., https://pubmed.ncbi.nlm.nih.gov/29659363/. Accessed 22 Oct. 2020.
  • Saettini, Francesco, et al. “Neutropenia, Hypogammaglobulinemia, and Pneumonia: A Case of WHIM Syndrome.” Pediatrics International, vol. 60, no. 3, Mar. 2018, pp. 318–319., https://doi.org/10.1111/ped.13488. Accessed 22 Oct. 2020.
  • Aghamohammadi, Asghar, et al. “Preference of Genetic Diagnosis of CXCR4 Mutation Compared with Clinical Diagnosis of WHIM Syndrome.” Journal of Clinical Immunology, vol. 37, no. 3, Mar. 2017, pp. 282–286., https://doi.org/10.1007/s10875-017-0387-5. Accessed 22 Oct. 2020.
  • Badolato, Raffaele, and Donadieu, Jean. “How I Treat Warts, Hypogammaglobulinemia, Infections, and Myelokathexis Syndrome.” Blood, vol. 130, no. 23, Dec. 2017, pp. 2491–2498., https://doi.org/10.1182/blood-2017-02-708552. Accessed 22 Oct. 2020.
  • Shin, Dong Woo, et al. “WHIM Syndrome with a Novel CXCR4 Variant in a Korean Child.” Annals of Laboratory Medicine, vol. 37, no. 5, 2017, pp. 446–449., https://doi.org/10.3343/alm.2017.37.5.446. Accessed 22 Oct. 2020.
  • Liu, Qian, et al. “WHIM Syndrome Caused by Waldenström’s Macroglobulinemia-Associated Mutation CXCR4 l329fs.” Journal of Clinical Immunology, vol. 36, no. 4, May 2016, pp. 397–405., https://doi.org/10.1007/s10875-016-0276-3. Accessed 22 Oct. 2020.
  • Moens, Leen, et al. “Successful Hematopoietic Stem Cell Transplantation for Myelofibrosis in an Adult with
    Warts-Hypogammaglobulinemia-Immunodeficiency-Myelokathexis Syndrome.” Journal of Allergy and Clinical Immunology, vol. 138, no. 5, Nov. 2016, https://doi.org/10.1016/j.jaci.2016.04.057. Accessed 22 Oct. 2020.
  • Bhar, Saleh, et al. “Allogeneic Stem Cell Transplantation in a Pediatric Patient with WHIM Syndrome.” Blood, vol. 126, no. 23, 2015, pp. 5528–5528., https://doi.org/10.1182/blood.v126.23.5528.5528. Accessed 22 Oct. 2020.
  • McDermott, David H., et al. “Chromothriptic Cure of WHIM Syndrome.” Cell, vol. 160, no. 4, Feb. 2015, pp. 686–699., https://doi.org/10.1016/j.cell.2015.01.014. Accessed 22 Oct. 2020.
  • Yoshii, Y., et al. “Primary Cutaneous Follicle Center Lymphoma in a Patient with WHIM Syndrome.” Journal of the European Academy of Dermatology and Venereology, vol. 30, no. 3, Jan. 2015, pp. 529–530., https://doi.org/10.1111/jdv.12927. Accessed 22 Oct. 2020.
  • Chen, Xiao-juan, et al. “WHIM Syndrome: a Case Report and Literature Review.” Chinese Journal of Pediatrics, vol. 51, no. 3, Mar. 2013, pp. 178–82., https://pubmed.ncbi.nlm.nih.gov/23751577/. Accessed 22 Oct. 2020.
  • Badolato, Raffaele, et al. “Tetralogy of Fallot Is an Uncommon Manifestation of Warts, Hypogammaglobulinemia, Infections, and Myelokathexis Syndrome.” The Journal of Pediatrics, vol. 161, no. 4, Oct. 2012, pp. 763–765.,
    https://doi.org/10.1016/j.jpeds.2012.05.058. Accessed 22 Oct. 2020.
  • Beaussant Cohen, Sarah, et al. “Description and Outcome of a Cohort of 8 Patients with WHIM Syndrome from the French Severe Chronic Neutropenia Registry.” Orphanet Journal of Rare Diseases, vol. 7, no. 1, Sept. 2012,
    https://doi.org/10.1186/1750-1172-7-71. Accessed 22 Oct. 2020.
  • Liu, Qian, et al. “WHIM Syndrome Caused by a Single Amino Acid Substitution in the Carboxy-Tail of Chemokine Receptor CXCR4.” Blood, vol. 120, no. 1, July 2012, pp. 181–189., https://doi.org/10.1182/blood-2011-12-395608. Accessed 22 Oct. 2020.
  • McDermott, David H., et al. “The CXCR4 Antagonist Plerixafor Corrects Panleukopenia in Patients with WHIM Syndrome.” Blood, vol. 118, no. 18, Nov. 2011, pp. 4957–4962., https://doi.org/10.1182/blood-2011-07-368084. Accessed 22 Oct. 2020.
  • Naoum, Flavio Augusto. “A Report of WHIM Syndrome (Myelokathexis).” Revista Brasileira De Hematologia e Hemoterapia, vol. 33, no. 5, Nov. 2011, pp. 393–394., https://doi.org/10.5581/1516-8484.20110105. Accessed 22 Oct. 2020.
  • Handisurya, Alessandra, et al. “A Quadrivalent HPV Vaccine Induces Humoral and Cellular Immune Responses in WHIM Immunodeficiency Syndrome.” Vaccine, vol. 28, no. 30, July 2010, pp. 4837–4841., https://doi.org/10.1016/j.vaccine.2010.04.057. Accessed 22 Oct. 2020.
  • Palm, Melanie D. “Human Papillomavirus Typing of Verrucae in a Patient with WHIM Syndrome.” Archives of Dermatology, vol. 146, no. 8, Aug. 2010, p. 918., https://doi.org/10.1001/archdermatol.2010.184. Accessed 22 Oct. 2020.
  • Takaya, Junji, et al. “A Case of WHIM Syndrome Associated with Diabetes and Hypothyroidism.” Pediatric Diabetes, vol. 10, no. 7, Nov. 2009, pp. 484–486., https://doi.org/10.1111/j.1399-5448.2009.00503.x. Accessed 22 Oct. 2020.
  • Tassone, Laura, et al. “Clinical and Genetic Diagnosis of Warts, Hypogammaglobulinemia, Infections, and Myelokathexis Syndrome in 10 Patients.” Journal of Allergy and Clinical Immunology, vol. 123, no. 5, May 2009, https://doi.org/10.1016/j.jaci.2008.12.1133. Accessed 22 Oct. 2020.
  • Siedlar, Maciej, et al. “Familial Occurrence of Warts, Hypogammaglobulinemia, Infections, and Myelokathexis (WHIM) Syndrome.” Archivum Immunologiae Et Therapiae Experimentalis, vol. 56, no. 6, Dec. 2008, pp. 419–425.,
    https://doi.org/10.1007/s00005-008-0046-x. Accessed 22 Oct. 2020.
  • Vinurel, H., et al. “Le Syndrome De WHIM: Une Cause Exceptionnelle De Bronchiectasies Diffuses.” Revue Des Maladies Respiratoires, vol. 25, no. 5, May 2008, pp. 614–618., https://doi.org/10.1016/s0761-8425(08)71621-8. Accessed 22 Oct. 2020.
  • Alapi, Krisztina, et al. “Recurrent CXCR4 Sequence Variation in a Girl with WHIM Syndrome.” European Journal of Haematology, vol. 78, no. 1, Nov. 2007, pp. 86–88., https://doi.org/10.1111/j.1600-0609.2006.00779.x. Accessed 22 Oct. 2020.
  • Hagan, John B., and Nguyen, Phuong L. “WHIM Syndrome.” Mayo Clinic Proceedings, vol. 82, no. 9, Sept. 2007, p. 1031., https://doi.org/10.4065/82.9.1031. Accessed 22 Oct. 2020.
  • Latger-Cannard, Veronique, et al. “The WHIM Syndrome Shows a Peculiar Dysgranulopoiesis: Myelokathexis.” British Journal of Haematology, vol. 132, no. 6, Feb. 2006, pp. 669–669., https://doi.org/10.1111/j.1365-2141.2005.05908.x. Accessed 22 Oct. 2020.
  • Sanmun, Duangmanee, et al. “Stromal-Derived Factor-1 Abolishes Constitutive Apoptosis of WHIM Syndrome Neutrophils Harbouring a Truncating CXCR4 Mutation.” British Journal of Haematology, vol. 134, no. 6, Sept. 2006, pp. 640–644.,
    https://doi.org/10.1111/j.1365-2141.2006.06240.x. Accessed 22 Oct. 2020.
  • Balabanian, K. “WHIM Syndromes with Different Genetic Anomalies Are Accounted for by Impaired CXCR4 Desensitization to CXCL12.” Blood, vol. 105, no. 6, Mar. 2005, pp. 2449–2457., https://doi.org/10.1182/blood-2004-06-2289. Accessed 22 Oct. 2020.
  • Taniuchi, S., et al. “The Role of a Mutation of the CXCR4 Gene in WHIM Syndrome.” Haematologica, vol. 90, no. 9, Jan. 2005, pp. 1271–1272., http://www.haematologica.org/content/90/9/1271.full.pdf+html. Accessed 22 Oct. 2020.
  • Tarzi, Michael D., et al. “Sporadic Case of Warts, Hypogammaglobulinemia, Immunodeficiency, and Myelokathexis Syndrome.” Journal of Allergy and Clinical Immunology, vol. 116, no. 5, Nov. 2005, pp. 1101–1105., https://doi.org/10.1016/j.jaci.2005.08.040. Accessed 22 Oct. 2020.
  • Gulino, Anna Virginia, et al. “Altered Leukocyte Response to CXCL12 in Patients with Warts Hypogammaglobulinemia, Infections, Myelokathexis (WHIM) Syndrome.” Blood, vol. 104, no. 2, July 2004, pp. 444–452., https://doi.org/10.1182/blood-2003-10-3532. Accessed 22 Oct. 2020.
  • Imashuku, S., et al. “Epstein-Barr Virus-Associated T-Lymphoproliferative Disease with Hemophagocytic Syndrome, Followed by Fatal Intestinal B Lymphoma in a Young Adult Female with WHIM Syndrome.” Annals of Hematology, vol. 81, no. 8, 20 July 2002, pp. 470–473., https://doi.org/10.1007/s00277-002-0489-9. Accessed 22 Oct. 2020.
  • Chae, K.Mireille, et al. “B-Cell Lymphoma in a Patient with WHIM Syndrome.” Journal of the American Academy of Dermatology, vol. 44, no. 1, Jan. 2001, pp. 124–128., https://doi.org/10.1067/mjd.2001.111337. Accessed 22 Oct. 2020.
  • Gorlin, Robert J., et al. “WHIM Syndrome, an Autosomal Dominant Disorder: Clinical, Hematological, and Molecular Studies.” American Journal of Medical Genetics, vol. 91, no. 5, Apr. 2000, pp. 368–376.,
  • Hord, Jeffrey D., et al. “Clinical Features of Myelokathexis and Treatment with Hematopoietic Cytokines.” Journal of Pediatric Hematology/Oncology, vol. 19, no. 5, Sept. 1997, pp. 443–448., https://doi.org/10.1097/00043426-199709000-00007. Accessed 22 Oct. 2020.
  • Wetzler, Meir, et al. “A New Familial Immunodeficiency Disorder Characterized by Severe Neutropenia, a Defective Marrow Release Mechanism, and Hypogammaglobulinemia.” The American Journal of Medicine, vol. 89, no. 5, Nov. 1990, pp. 663–672., https://doi.org/10.1016/0002-9343(90)90187-i. Accessed 22 Oct. 2020.