WHIM Publications

The publications listed below are offered for informational purposes only and do not represent all publications to which X4 Pharmaceuticals or its collaboration partners have contributed or may contribute or that relate to X4 Pharmaceuticals’ product candidates.  These publications are made available by third parties, and the content of any linked third-party site is the responsibility of the third party, not X4 Pharmaceuticals, and X4 Pharmaceuticals disclaims liability for the linked content.


Skin Health And Disease. 2022 Feb 9. DOI: https://doi.org/10.1002/ski2.98.

Consideration of underlying immunodeficiency in refractory or recalcitrant warts: A review of the literature

J. Zampella and B. Cohen


Blood blood.2020007197. doi: https://doi.org/10.1182/blood.2020007197. Epub 2020 Aug 31

Results of a Phase 2 Trial of an Oral CXCR4 Antagonist Mavorixafor for Treatment of WHIM Syndrome

David C Dale, Frank C Firkin, Audrey Anna Bolyard, Merideth Kelley, Vahagn Makaryan, Kenneth J Gorelick, Tarek Ebrahim, Varun Garg, Weihua Tang, Honghua Jiang, Renato Skerlj, Sarah L. Beaussant Cohen.


N Engl J Med. 2019 Jan 10;380(2):163-170. doi: 10.1056/NEJMoa1808575.

Plerixafor for the Treatment of WHIM Syndrome.

McDermott DH, Pastrana DV, Calvo KR, Pittaluga S, Velez D, Cho E, Liu Q, Trout HH 3rd, Neves JF, Gardner PJ, Bianchi DA, Blair EA, Landon EM, Silva SL, Buck CB, Murphy PM.


J Allergy Clin Immunol Pract. 2019 May – Jun;7(5):1568-1577. doi: 10.1016/j.jaip.2019.01.045. Epub 2019 Feb 2.

Long-Term Outcome of WHIM Syndrome in 18 Patients: High Risk of Lung Disease and HPV-Related Malignancies.

Dotta L1Notarangelo LD2Moratto D3Kumar R3Porta F2Soresina A4Lougaris V5Plebani A5Smith CIE6Norlin AC7Gòmez Raccio AC8Bubanska E9Bertolini P10Amendola G11Visentini M12Fiorilli M12Venuti A13Badolato R5.


Blood. 2017 Dec 7;130(23):2491-2498. doi: 10.1182/blood-2017-02-708552. Epub 2017 Oct 24.

How I treat warts, hypogammaglobulinemia, infections, and myelokathexis syndrome.

Badolato R1,2Donadieu J3WHIM Research Group.


Orphanet J Rare Dis. 2012 Sep 25;7:71. doi: 10.1186/1750-1172-7-71.

Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry.

Sarah Beaussant Cohen, Odile Fenneteau, Emmanuel Plouvier, Pierre-Simon Rohrlich, Gerard Daltroff, Isabelle Plantier, Alain Dupuy, Delphine Kerob, Blandine Beaupain, Pierre Bordigoni, Fanny Fouyssac,
Anne-Lise Delezoide, Gilles Devouassoux, Jean François Nicolas, Philippe Bensaid, Yves Bertrand, Karl Balabanian, Christine Bellanne Chantelot, Françoise Bachelerie , Jean Donadieu.


Blood. 2011 Nov 3;118(18):4957-62. doi: 10.1182/blood-2011-07-368084. Epub 2011 Sep 2.

The CXCR4 antagonist plerixafor corrects panleukopenia in patients with WHIM syndrome.

McDermott DH1Liu QUlrick JKwatemaa NAnaya-O’Brien SPenzak SRFilho JOPriel DAKelly CGarofalo MLittel PMarquesen MMHilligoss DDecastro RFleisher TAKuhns DBMalech HLMurphy PM.


Clin Immunol. 2010 Jun;135(3):412-21. doi: 10.1016/j.clim.2010.02.006. Epub 2010 Mar 11.

Oligoclonality, impaired class switch and B-cell memory responses in WHIM syndrome.

Mc Guire PJ1Cunningham-Rundles COchs HDiaz GA.


Blood. 2004 Jul 15;104(2):444-52. Epub 2004 Mar 16.

Altered leukocyte response to CXCL12 in patients with warts hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome.

Gulino AV1Moratto DSozzani SCavadini POtero KTassone LImberti LPirovano SNotarangelo LDSoresina RMazzolari ENelson DLNotarangelo LDBadolato R.


Nat Genet. 2003 May;34(1):70-4.

Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease.

Hernandez PA1Gorlin RJLukens JNTaniuchi SBohinjec JFrancois FKlotman MEDiaz GA.

Primary Immunodeficiencies

Clin Rev Allergy Immunol. 2014 Apr;46(2):145-53. doi: 10.1007/s12016-013-8380-0.

New genetic discoveries and primary immune deficiencies.

Hernandez-Trujillo V1.


J Clin Immunol. 2007 Sep;27(5):497-502. Epub 2007 Jun 19.

Population prevalence of diagnosed primary immunodeficiency diseases in the United States.

Boyle JM1Buckley RH.


J Allergy Clin Immunol. 2012 Nov;130(5):1030-48. doi: 10.1016/j.jaci.2012.07.049. Epub 2012 Oct 1.

Warts and all: human papillomavirus in primary immunodeficiencies.

Leiding JW1Holland SM.


Blood. 2010 Oct 14;116(15):2793-802. doi: 10.1182/blood-2010-01-265942. Epub 2010 Jul 8.

Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis.

McDermott DH1De Ravin SSJun HSLiu QPriel DANoel PTakemoto CMOjode TPaul SMDunsmore KPHilligoss DMarquesen MUlrick JKuhns DBChou JYMalech HLMurphy PM.

X4 Pharmaceuticals does not review or control the content on the website to which this hyperlink connects and this hyperlink does not constitute an endorsement by X4 Pharmaceuticals of the content of any non-X4 Pharmaceuticals website.