References

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

2020

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.

2019

Bies, Joshua J., et al. “Successful Allogeneic HCT for W.H.I.M. 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.

2018

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 sydrome]. 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.

2017

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.

2016

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.

2015

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.

2013

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.

2012

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.

2011

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.

2010

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.

2009

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.

2008

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.

2007

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.

2006

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.

2005

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.

2004

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.

2002

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.

2001

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.

2000

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.,