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Introduction <p>WHIM syndrome is a rare autosomal dominant inborn error of immunity caused by gain-of-function mutations in the chemokine receptor&#xa0;<i>CXCR4.</i>&#xa0;Patients with WHIM syndrome frequently suffer from an increased risk for bacterial and viral infections, especially warts due to human papillomavirus. Associations between WHIM syndrome and fungal infections have not been previously identified. The objective of this study was to estimate the prevalence of superficial fungal infections in patients with WHIM syndrome.</p> Methods <p>This retrospective single-institution cohort study assessed patients with genotype-confirmed WHIM syndrome evaluated between March 2007 and March 2024.</p> Results <p>Of 45 patients with WHIM syndrome, 18 (40%) were diagnosed with at least one superficial fungal infection. These infections included dermatophytosis (<i>n</i> = 14, 78%), pityriasis versicolor (<i>n</i> = 6, 33%), and pityrosporum folliculitis (<i>n</i> = 1, 6%). No correlation was detected between superficial fungal infection risk and the degree of peripheral neutropenia, lymphopenia, or hypogammaglobulinemia. The median time to resolution of the longest episode of superficial dermatophytosis (skin or hair) was 171.5 (range 53–3650) days, and several patients experienced prolonged courses requiring serial retreatments.</p> Conclusions <p>These findings suggest that frequent or prolonged superficial fungal infections may be a useful clinical sign to prompt consideration of a WHIM syndrome diagnosis, especially in patients with numerous cutaneous warts or other history to suggest immunodeficiency.</p> Trial Registration <p>Participants were enrolled in a natural history trial registered with ClinicalTrials.gov (NCT00128973).</p>

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Risk of Superficial Fungal Infections in WHIM Syndrome

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年4月3日

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  • Jennifer Strong,
  • Rutha Adhanom,
  • Caleb S. Kim,
  • Yoshine Saito,
  • Jasmine C. Meltzer,
  • Patrick Hallaert,
  • Sophia Martinez,
  • Abigail Salancy,
  • Heidi H. Kong,
  • Edward W. Cowen,
  • Leslie Castelo-Soccio,
  • Philip M. Murphy,
  • David H. McDermott,
  • Isaac Brownell

摘要

Introduction

WHIM syndrome is a rare autosomal dominant inborn error of immunity caused by gain-of-function mutations in the chemokine receptor CXCR4. Patients with WHIM syndrome frequently suffer from an increased risk for bacterial and viral infections, especially warts due to human papillomavirus. Associations between WHIM syndrome and fungal infections have not been previously identified. The objective of this study was to estimate the prevalence of superficial fungal infections in patients with WHIM syndrome.

Methods

This retrospective single-institution cohort study assessed patients with genotype-confirmed WHIM syndrome evaluated between March 2007 and March 2024.

Results

Of 45 patients with WHIM syndrome, 18 (40%) were diagnosed with at least one superficial fungal infection. These infections included dermatophytosis (n = 14, 78%), pityriasis versicolor (n = 6, 33%), and pityrosporum folliculitis (n = 1, 6%). No correlation was detected between superficial fungal infection risk and the degree of peripheral neutropenia, lymphopenia, or hypogammaglobulinemia. The median time to resolution of the longest episode of superficial dermatophytosis (skin or hair) was 171.5 (range 53–3650) days, and several patients experienced prolonged courses requiring serial retreatments.

Conclusions

These findings suggest that frequent or prolonged superficial fungal infections may be a useful clinical sign to prompt consideration of a WHIM syndrome diagnosis, especially in patients with numerous cutaneous warts or other history to suggest immunodeficiency.

Trial Registration

Participants were enrolled in a natural history trial registered with ClinicalTrials.gov (NCT00128973).