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

Order a No-Cost Genetic Test

WHIM Syndrome 3-Point Diagnosis

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

WHIM Syndrome 3-Point Diagnosis

Download Diagnosis Guide

Do you have a patient with WHIM syndrome?

Invite your patient to review and sign the consent to connect with an X4 Nurse Educator* who 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?

Invite your patient to review and sign the consent to connect with an X4 Nurse Educator* who 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?

Interventions for patients with WHIM syndrome often include symptomatic management. Early diagnosis and intervention may play an important role in reducing the risk of potential long-term complications.2,6

TABLE-SymtomaticManagement-dt

Learn about an FDA-approved treatment in WHIM syndrome.

Next Section: WHIM Resources

Next Section: WHIM Resources

  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. McDermott DH, Murphy PM. WHIM syndrome: immunopathogenesis, treatment and cure strategies. Immunol Rev. 2019;287(1):91-102. doi:10.1111/imr.12719
  6. Al Ustwani O, Kurzrock R, Wetzler M. Genetics on a WHIM. Br J Haematol. 2014;164(1):15-23. doi:10.1111/bjh.12574