Clinical evaluation, bone marrow biopsy and/or genetic testing can help inform a WHIM syndrome diagnosis.1

When should WHIM syndrome be suspected?

WHIM syndrome should be suspected in any case of unexplained chronic neutropenia with lymphopenia, monocytopenia, or both.2 However, neutropenia may be difficult to detect due to elevated neutrophil counts that are present during acute infections.3

Genetic testing for CXCR4 pathogenic variants, bone marrow biopsy to detect myelokathexis, or both may be instructive and help inform a clinical diagnosis.1

WHIM Syndrome 3-Point Diagnosis

Clinical evaluation, bone marrow biopsy and/or genetic testing can help inform a 
WHIM syndrome diagnosis.1

Do you have a patient with WHIM syndrome?

An X4 Nurse Educator* can help patients navigate the unique challenges of living with and managing WHIM syndrome.

* X4 Nurse Educators are employees of X4 Pharmaceuticals and do not work under the direction of a healthcare professional; they do not offer medical or treatment-related advice. For treatment and medical questions, patients should contact their healthcare provider.

Do you have a patient with WHIM syndrome?

An X4 Nurse Educator* can help patients navigate the unique challenges of living with and managing WHIM syndrome.

CONNECT YOUR PATIENT WITH AN X4 NURSE EDUCATOR

* X4 Nurse Educators are employees of X4 Pharmaceuticals and do not work under the direction of a healthcare professional; they do not offer medical or treatment-related advice. For treatment and medical questions, patients should contact their healthcare provider.

How is WHIM syndrome managed?

Current interventions for WHIM syndrome are used mainly for symptom management and may play an important role in reducing the risk of potential long-term complications. These interventions are not specifically indicated for WHIM syndrome.2,5,7

WHIM Syndrome Management Table
WHIM Syndrome Management Table
  1. Geier CB, Ellison M, Cruz R, et al. Disease progression of WHIM syndrome in an international cohort of 66 pediatric and adult patients. J Clin Immunol. 2022;42(8):1748-1765. doi:10.1007/s10875-022-01312-7
  2. Badolato R, Donadieu J; WHIM Research Group. How I treat warts, hypogammaglobulinemia, infections, and myelokathexis syndrome. Blood. 2017;130(23):2491-2498. doi:10.1182/blood-2017-02-708552
  3. Heusinkveld LE, Majumdar S, Gao JL, McDermott DH, Murphy PM. WHIM syndrome: from pathogenesis towards personalized medicine and cure. J Clin Immunol. 2019;39(6):532-556. doi:10.1007/s10875-019-00665-w
  4. Beaussant Cohen S, Fenneteau O, Plouvier E, et al. Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry. Orphanet J Rare Dis. 2012;7:71. doi:10.1186/1750-1172-7-71
  5. Dale DC, Firkin F, Bolyard AA, 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. doi:10.1182/blood.2020007197
  6. McDermott DH, Murphy PM. WHIM syndrome: Immunopathogenesis, treatment and cure strategies. Immunol Rev. 2019;287(1):91-102. doi:10.1111/imr.12719
  7. Al Ustwani O, Kurzrock R, Wetzler M. Genetics on a WHIM. Br J Haematol. 2014;164(1):15-23. doi:10.1111/bjh.12574