Risk of Superficial Fungal Infections in WHIM Syndrome

Area of Science:

• Immunology
• Dermatology
• Infectious Diseases

Background:

• WHIM syndrome is a rare genetic immunodeficiency caused by CXCR4 mutations, leading to increased susceptibility to bacterial and viral infections.
• Superficial fungal infections have not been previously linked to WHIM syndrome.
• The study aimed to determine the prevalence of superficial fungal infections in WHIM syndrome patients.

Purpose of the Study:

• To investigate the association between WHIM syndrome and superficial fungal infections.
• To estimate the prevalence of fungal infections in individuals with WHIM syndrome.

Main Methods:

• A retrospective cohort study was conducted.
• Data from genotype-confirmed WHIM syndrome patients evaluated between March 2007 and March 2024 were assessed.
• Patients were enrolled in a natural history trial (ClinicalTrials.gov NCT00128973).

Main Results:

• Out of 45 WHIM syndrome patients, 18 (40%) had at least one superficial fungal infection.
• The most common infections were dermatophytosis (78%), pityriasis versicolor (33%), and pityrosporum folliculitis (6%).
• No correlation was found between fungal infections and the severity of neutropenia, lymphopenia, or hypogammaglobulinemia.

Conclusions:

• Frequent or persistent superficial fungal infections could be a clinical indicator for considering a WHIM syndrome diagnosis.
• This is particularly relevant in patients presenting with numerous warts or other signs of immunodeficiency.
• Superficial fungal infections may represent an underrecognized clinical manifestation of WHIM syndrome.