WHIM syndrome diagnosis and support resources

How does WHIM syndrome manifest?

WHIM syndrome is a combined immunodeficiency disorder most frequently characterized by neutropenia, lymphopenia, recurrent infections, and hypogammaglobulinemia. Warts may not always be present.1,2

Prevalence of Manifestations in the WHIM Acronym1

Prevalence of Manifestations in WHIM Acronym Chart

Based on an international cohort of 66 patients with WHIM syndrome, which included pediatric (65%) and adult (35%) patients.1

* Includes leukopenia in cases where bone marrow biopsy was not performed.1

Based on an international cohort of 66 patients with WHIM syndrome, which included pediatric (65%) and adult (35%) patients.1

* Includes leukopenia in cases where bone marrow biopsy was not performed.1

Learn about WHIM clinical presentation

Why is early diagnosis of WHIM syndrome critical?

Early diagnosis is essential to enable clinical vigilance and intervention that may reduce the risk of potential life-threatening complications of WHIM syndrome,1,3 including:

Early diagnosis is essential to enable clinical vigilance and intervention that may reduce the risk of potential life-threatening complications of WHIM syndrome,1,3 including:

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Why is early diagnosis of WHIM syndrome critical?

Take action to diagnose & manage WHIM

Get more information about WHIM syndrome

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Get more information about WHIM syndrome

Contact an X4 Rare Disease
Specialist directly.

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  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. 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
  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. Moulin C, Beaupain B, Suarez F, et al. CXCR4 WHIM syndrome is a cancer predisposition condition for virus-induced malignancies. Br J Haematol. 2024;204(4):1383-1392. doi:10.1111/bjh.19373