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  • Recognizing WHIM

    Understanding the clinical manifestations of WHIM syndrome can aid diagnosis and make a difference for patients with this rare disease. Learn why WHIM syndrome needs your urgent attention.

    • Symptoms & Classification
    • Why Is Early Diagnosis Critical?
    • Symptoms & Classification
    • Why Is Early Diagnosis Critical?
  • Mechanism of Disease

    Myelokathexis is present in ~100% of WHIM syndrome cases, even when other clinical features may be absent. Learn about the underlying physiological dysfunction that gives rise to WHIM syndrome.

    • WHIM Syndrome Pathophysiology
    • WHIM Syndrome Pathophysiology
  • Diagnosis & Management

    Find out more about diagnosing WHIM syndrome, which may help inform and guide patient management, improve outcomes, and reduce the risk of potential long-term complications.

    • Methods for Diagnosis
    • Management Approaches
    • Patient Profiles
    • Methods for Diagnosis
    • Management Approaches
    • Patient Profiles
  • WHIM Resources

    Find resources to support WHIM syndrome diagnosis, including information about no-cost genetic testing.

    • HCP Diagnosis Resources
    • Patient Resources
    • HCP Diagnosis Resources
    • Patient Resources
  • Request a Rep
Homepagewhatifitswhdev2025-05-08T18:26:35+00:00

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WHIM syndrome diagnosis and support resources

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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 critical 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 critical 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

Contact an X4 Rare Disease Specialist directly.

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Get more information about WHIM syndrome

Contact an X4 Rare Disease
Specialist directly.

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Sign up for disease education resources and updates from X4 Pharmaceuticals.

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References

  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

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Patients pictured on this site are actor portrayals.

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Patients pictured on this site are actor portrayals.

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