The Significant Burden of Infection Among Patients with Warts, Hypogammaglobulinemia, Infections, and Myelokathexis Syndrome: A Patient and Caregiver Survey

Background WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a rare combined primary immunodeficiency associated with highly variable multisystemic manifestations and increased risk of infections, neoplasm-related comorbidities, end-organ damage, and, in some cases, early death. The published literature describing the clinical disorder and complications are limited. Moreover, there are no published reports describing patient- and caregiver-reported clinical burden of WHIM syndrome. The objective of this patient and caregiver survey is to describe the types of infections and clinical burden among children and adults with WHIM syndrome. Methods Individuals with a diagnosis of WHIM syndrome (patients) and any person providing care for a patient (caregiver) were eligible to complete an online survey describing their clinical burden. Caregivers responded for patients less than 18 years of age. Patients currently enrolled in a clinical trial for the treatment of WHIM syndrome, had ever received treatment with a CXCR4 antagonist, or who were not fluent in English were excluded. Results Twenty patients with WHIM syndrome had survey data collected (<18 years of age, n = 5; ≥18 years of age, n = 15). Among adult patients, 7 were female, 5 were male, 1 was non-binary, and 2 were transgender; all children were male. Infection burden in the past 3 months included high rates of eye infection (80% of children and 33% of adults), oral infection (53% of adults), and HPV (80% of children and 67% of adults) (Figure). As expected, high rates of respiratory infection were also reported (80% of children and 93% of adults). Sixty percent (12/20) of patients (60% of pediatrics <18 years of age; 73% of patients ≥18 years of age) experienced at least 1 infection requiring medical treatment in the last 3 months. Of those, 25% (5/20) reported receiving care at a hospital overnight due to infection. Figure. Patient-reported infections (past 3 months). Conclusions This is the first ever report on the day-to-day infection burden of WHIM syndrome from a patient perspective. The frequency and severity of infections requiring medical care and hospitalization underscores the urgency to proactively treat patients with WHIM syndrome.