Risk of Superficial Fungal Infections in WHIM Syndrome.

IF 3.5 3区医学 Q1 DERMATOLOGY

Dermatology and Therapy Pub Date : 2025-04-03 DOI:10.1007/s13555-025-01396-0

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

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引用次数: 0

Abstract

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).

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WHIM综合征浅表真菌感染的风险。

简介：WHIM综合征是一种罕见的常染色体显性先天免疫错误，由趋化因子受体CXCR4的功能获得性突变引起。患有WHIM综合征的患者经常遭受细菌和病毒感染的风险增加，特别是由于人乳头瘤病毒引起的疣。WHIM综合征与真菌感染之间的关联此前尚未确定。本研究的目的是估计WHIM综合征患者中浅表真菌感染的患病率。方法：本回顾性单机构队列研究评估了2007年3月至2024年3月评估的基因型确诊的WHIM综合征患者。结果：45例WHIM综合征患者中，18例（40%）被诊断为至少一种浅表真菌感染。这些感染包括皮肤癣（n = 14, 78%）、花斑糠疹（n = 6, 33%）和糠疹孢子菌毛囊炎（n = 1.6%）。未发现浅表真菌感染风险与外周血中性粒细胞减少、淋巴细胞减少或低γ -球蛋白血症的程度相关。最长的浅表性皮肤癣（皮肤或头发）发作的中位时间为171.5（范围53-3650）天，一些患者经历了延长的疗程，需要连续再治疗。结论：这些发现提示，频繁或长时间的浅表真菌感染可能是提示WHIM综合征诊断的有用临床体征，特别是在有大量皮肤疣或其他历史提示免疫缺陷的患者中。试验注册：参与者被纳入在ClinicalTrials.gov （NCT00128973）注册的自然史试验。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Dermatology and Therapy Medicine-Dermatology

CiteScore

6.00

自引率

8.80%

发文量

187

审稿时长

6 weeks

期刊介绍： Dermatology and Therapy is an international, open access, peer-reviewed, rapid publication journal (peer review in 2 weeks, published 3–4 weeks from acceptance). The journal is dedicated to the publication of high-quality clinical (all phases), observational, real-world, and health outcomes research around the discovery, development, and use of dermatological therapies. Studies relating to diagnosis, pharmacoeconomics, public health and epidemiology, quality of life, and patient care, management, and education are also encouraged. Areas of focus include, but are not limited to all clinical aspects of dermatology, such as skin pharmacology; skin development and aging; prevention, diagnosis, and management of skin disorders and melanomas; research into dermal structures and pathology; and all areas of aesthetic dermatology, including skin maintenance, dermatological surgery, and lasers. The journal is of interest to a broad audience of pharmaceutical and healthcare professionals and publishes original research, reviews, case reports/case series, trial protocols, and short communications. Dermatology and Therapy will consider all scientifically sound research be it positive, confirmatory or negative data. Submissions are welcomed whether they relate to an International and/or a country-specific audience, something that is crucially important when researchers are trying to target more specific patient populations. This inclusive approach allows the journal to assist in the dissemination of quality research, which may be considered of insufficient interest by other journals. The journal appeals to a global audience and receives submissions from all over the world.