Whim Syndrome Epidemiology

Key Highlights

• In 2024, the US held a substantial share of the diagnosed prevalence of Primary Immunodeficiency Disease (PID) across the 7MM, with an estimated 82 thousand affected individuals. Projections for 2025–2034 indicate a steady rise in cases, underscoring the increasing burden of PID and the importance of ongoing surveillance and long-term healthcare planning.
• According to DelveInsight’s 2024 findings, approximately 180 individuals in the US were diagnosed with WHIM syndrome—a reflection of both the rarity of this primary immunodeficiency and the growing awareness around its clinical recognition.
• DelveInsight’s estimates indicate a distinct gender skew in the diagnosed prevalence of WHIM syndrome across EU4 and the UK in 2024, with females comprising approximately 60% of cases compared to 40% among males. This female predominance not only highlights a potential biological or diagnostic variation but also emphasizes the importance of exploring sex-specific factors in understanding and managing this rare immunodeficiency.
• In Japan, in 2024, out of 10 identified cases of WHIM syndrome, 5 were diagnosed in individuals under 18 years of age and 5 in those aged 18 years and above. This distribution highlights WHIM syndrome’s tendency to present early in life and reinforces the importance of early detection strategies and immunological screening in younger populations to ensure timely intervention.
• In 2024, the UK reported 98% cases of neutropenia and another 92% linked to infection cases, highlighting the immune vulnerability associated with WHIM syndrome. Additionally, there were 88% cases of lymphopenia and 65% instances of hypogammaglobulinemia, reflecting the syndrome’s impact on both cellular and humoral immunity. 40% cases were noted to have HPV-related manifestations and persistent warts, underscoring a key clinical hallmark of the condition.
• A major unmet need in WHIM syndrome lies in the delayed or missed diagnosis due to its rarity and overlapping symptoms with other conditions. There’s also limited access to specialized testing and genetic screening. Additionally, tailored long-term care strategies and dedicated research initiatives remain scarce, hindering progress in understanding and managing this complex immunodeficiency.

DelveInsight’s “WHIM Syndrome – Epidemiology Forecast – 2034” report delivers an in-depth understanding of WHIM syndrome, historical and forecasted epidemiology of WHIM syndrome in the United States, EU4 (Germany, France, Italy, and Spain), United Kingdom, and Japan.

Geography Covered

• The United States
• EU4 (Germany, France, Italy, and Spain), and the United Kingdom
• Japan

Study Period: 2020–2034

WHIM Syndrome Understanding

WHIM Syndrome Overview

WHIM syndrome is an exceptionally rare primary immunodeficiency that presents significant diagnostic challenges and leaves individuals highly susceptible to recurrent bacterial infections and chronic HPV-related complications. The acronym WHIM refers to its key features: Warts, Hypogammaglobulinemia, Infections, and Myelokathexis. It follows an autosomal dominant inheritance pattern and stems from mutations in the C-X-C chemokine receptor type 4 (CXCR4) gene, which cause white blood cells to be abnormally retained in the bone marrow, leading to profound neutropenia.

Symptoms typically emerge in early childhood, marked by frequent infections such as sinusitis, otitis media, pneumonia, pharyngitis, and meningitis—all generally responsive to antibiotic therapy. Persistent, treatment-resistant HPV warts are common and vary in location and severity. Due to reduced B-cell function, patients experience low immunoglobulin levels, further weakening immune defence. Interestingly, despite low neutrophil counts, severe systemic infections are relatively rare. Some individuals also present with congenital issues, including heart anomalies and skeletal irregularities. The scarcity of pathological studies continues to limit full understanding of this complex disorder.

WHIM Syndrome Diagnosis

Diagnosing WHIM syndrome involves a multifaceted clinical approach that begins with recognizing hallmark symptoms such as recurrent bacterial infections and persistent warts—signs that, while not exclusive to WHIM, suggest an underlying primary immunodeficiency. When these symptoms are accompanied by laboratory findings like neutropenia, lymphopenia, and low immunoglobulin levels (hypogammaglobulinemia), clinicians should strongly consider WHIM in the differential diagnosis.

A crucial next step is bone marrow analysis. If the biopsy reveals myelokathexis—the abnormal retention of mature neutrophils—this serves as a key pathological clue. Genetic testing for mutations in the CXCR4 gene further supports the diagnosis, as WHIM is most commonly associated with autosomal-dominant CXCR4 mutations. Notably, a rapid clinical response to low doses of G-CSF (granulocyte-colony stimulating factor) also lends diagnostic support.

However, not all patients with WHIM-like features have identifiable CXCR4 mutations, suggesting alternative genetic drivers. In such cases, a presumptive diagnosis may be made based on clinical evidence and marrow findings to guide timely management. Comprehensive evaluation, including patient history, blood analysis, and genetic testing, remains essential to accurately identify and address this rare immunodeficiency.

Further details related to diagnosis are provided in the report…

WHIM Syndrome Epidemiology

For the purpose of designing the patient-based model for WHIM syndrome, the report provides historical as well as forecasted epidemiology segmented by diagnosed prevalent cases of PID, diagnosed prevalent cases of WHIM syndrome, gender-specific diagnosed prevalent cases of WHIM, age-specific diagnosed prevalent cases of WHIM, and clinical manifestation-specific diagnosed prevalent cases of WHIM syndrome in the 7MM covering the United States, EU4 countries (Germany, France, Italy, and Spain), the United Kingdom, and Japan, from 2020 to 2034.

• According to 2024 estimates, WHIM syndrome affected nearly 230 individuals across the 7MM, highlighting the rare yet significant burden this immunodeficiency places on healthcare systems within these regions. Despite its low prevalence, the condition demands focused attention due to its complex diagnosis and ongoing management challenges.
• DelveInsight’s 2024 data highlights a notable gender imbalance in WHIM syndrome prevalence within the US, with females representing the majority—around 112 cases—compared to nearly 69 in males. This pronounced female predominance points to potential sex-related biological or diagnostic differences.
• According to DelveInsight’s analysis, WHIM syndrome remains exceptionally rare across the EU4 and the UK, with a combined total of 42 reported cases. Among these, France accounted for the highest number, contributing nearly 14 cases. This distribution reflects both the rarity of the condition and the varying levels of diagnostic awareness and reporting across the region.
• In Italy, DelveInsight’s 2024 data suggests that WHIM syndrome shows greater prevalence among individuals under 18 years of age. Nearly 5 cases occurred in children and adolescents, while approximately 3 cases were reported in adults. This age-related pattern underscores the early onset nature of WHIM and highlights the importance of paediatric screening in rare immunodeficiencies.
• In 2024, approximately 19% of all WHIM syndrome patients across the EU4 and the UK sought treatment in the UK.
• As per 2024 data, Japan exhibited a noticeable gender disparity in WHIM syndrome cases, with females accounting for approximately 60% and males representing 40% of the diagnosed population.

KOL Views

To gaze into the epidemiology insights of the real world, we take KOLs and SMEs’ opinions working in the domain through primary research to fill the data gaps and validate our secondary research on disease prevalence.

DelveInsight’s analysts connected with 20+ KOLs to gather insights; however, interviews were conducted with 10+ KOLs in the 7MM. Centers such as Mount Sinai School of Medicine, the US; University of Freiburg, Freiburg, Germany; Hôpital Necker-Enfants Malades, Paris, France; Department of Pediatrics, Institute of Molecular Medicine, Brescia, Italy; Hospital Universitario La Paz, Madrid, Spain; Great Ormond Street Hospital, London, UK; Department of Pediatrics, Jikei University School of Medicine, Tokyo, Japan and others were contacted. Their opinion helps understand and validate current disease prevalence, gender involved with the disease, diagnosis rate, and diagnostic criteria.

Scope of the Report

• The report covers a segment of executive summary, descriptive overview of WHIM syndrome, explaining its causes, signs and symptoms, and currently available diagnostic algorithms and guidelines.
• Comprehensive insight has been provided into the epidemiology segments and forecasts, the future growth potential of diagnosis rate, disease progression, and diagnosis guidelines.
• The report provides an edge for understanding trends, expert insights/KOL views, and patient journeys in the 7MM.
• A detailed review of current challenges in establishing the diagnosis.

WHIM Syndrome Report Insights

• Patient Population
• Country-wise Epidemiology Distribution
• Diagnosed Prevalent Cases of PID
• Diagnosed Prevalent Cases of WHIM Syndrome
• Gender-specific Diagnosed Prevalent Cases of WHIM Syndrome
• Age-specific Diagnosed Prevalent Cases of WHIM Syndrome
• Clinical Manifestation-specific Diagnosed Prevalent Cases of WHIM Syndrome

WHIM Syndrome Report Key Strengths

• 10 years Forecast
• The 7MM Coverage
• WHIM syndrome Epidemiology Segmentation

WHIM Syndrome Report Assessment

• Current Diagnostic Practices
• Patient Segmentation

Epidemiology Insights

• What are the disease risk, burdens, and unmet needs of WHIM syndrome? What will be the growth opportunities across the 7MM concerning the patient population of WHIM syndrome?
• What is the historical and forecasted WHIM syndrome patient pool in the United States, EU4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan?
• Why is the diagnosed prevalent cases of WHIM syndrome in Japan lower than the US?
• Which country has a high patient share for WHIM syndrome?

Reasons to Buy

• Insights on patient burden/disease, evolution in diagnosis, and factors contributing to the change in the epidemiology of the disease during the forecast years.
• To understand the WHIM syndrome prevalent cases in varying geographies over the coming years.
• A detailed overview of gender-specific, age-specific, clinical manifestations prevalent cases of WHIM syndrome.
• To understand the perspective of key opinion leaders around the current challenges with establishing the diagnosis options.
• Detailed insights on various factors hampering disease diagnosis and other existing diagnostic challenges.

Frequently Asked Questions

1. What is the forecast period covered in the report?

The WHIM Syndrome Epidemiology report for the 7MM covers the forecast period from 2025 to 2034, providing a projection of epidemiology dynamics and trends during this timeframe.

2. Out of all EU4 countries and the UK, which country had the highest population of WHIM syndrome cases in 2024?

The highest cases of WHIM were found in the France among EU4 and the UK in 2024.

3. How is epidemiological data collected and analyzed for forecasting purposes?

Epidemiological data is collected through surveys, clinical studies, health records, and other sources. It is then analyzed to calculate disease rates, identify trends, and project future disease burdens using mathematical models.

4. Out of all 7MM countries, which country had the highest population of WHIM syndrome cases in 2024?

The highest cases of WHIM syndrome were found in the US among the 7MM in 2024.