Unexplained or persistent neutropenia could be WHIM syndrome

WHIM syndrome is a rare, combined primary immunodeficiency and chronic neutropenic disorder.¹

WHIM syndrome is heterogeneous and nonspecific. In fact, only 1 in 4 patients present with all manifestations in the WHIM acronym.² This heterogeneity makes WHIM syndrome challenging to detect and can delay diagnosis.² The first step to diagnosing WHIM syndrome is suspecting it.

The WHIM Syndrome Diagnosis Guide offers a symptom map and a 3-point approach to help identify and diagnose WHIM syndrome.

[Photo of The first step toDiagnosing WHIM Syndrome is suspecting it] [Photo of Early Diagnosis of WHIM Syndrome is Essential]

Diagnosing WHIM syndrome matters

Patients with undiagnosed WHIM syndrome are at risk for potential life‍-‍threatening complications including^2,3:

Life-threatening complications associated with WHIM syndrome: cancer risk, lifetime sepsis prevalence, and end-organ damage including bronchiectasis

* Based on analysis of n=60 patients, as described in Beaussant Cohen et al. Variable rates of cancer risk and prevalence in patients with WHIM are reported in the literature.⁴

An earlier diagnosis can enable clinical vigilance and earlier intervention that may reduce the risk of these complications.^2,3

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References: 1. 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 2. 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 3. Kawai T, Malech HL. WHIM syndrome: congenital immune deficiency disease. Curr Opin Hematol. 2009;16(1):20-26. doi:10.1097/MOH.0b013e32831ac557 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

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