Meltzer Jasmine C, Strong Jennifer, Martinez Sophia, Salancy Abigail, Adhanom Rutha, Cowen Edward W, Castelo-Soccio Leslie, Murphy Philip M, McDermott David H, Brownell Isaac
Dermatology Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA.
Molecular Signaling Section, Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Skin Health Dis. 2025 Jan 22;5(1):41-44. doi: 10.1093/skinhd/vzae002. eCollection 2025 Feb.
WHIM syndrome is a rare primary immunodeficiency typically caused by autosomal dominant activating mutations in the gene. WHIM refers to warts, hypogammaglobulinaemia, infections and myelokathexis, which are the primary phenotypes of the syndrome. Here we describe a case of tinea capitis in a patient with WHIM syndrome that was unresponsive to multiple systemic antifungal treatments for over 10 years. The patient's recalcitrant tinea infection was ultimately cured after treatment with posaconazole. These findings suggest that the defects in WHIM syndrome may confer susceptibility to dermatophyte infections.
WHIM综合征是一种罕见的原发性免疫缺陷病,通常由该基因的常染色体显性激活突变引起。WHIM代表疣、低丙种球蛋白血症、感染和白细胞停滞,这些是该综合征的主要表型。在此,我们描述了一例患有WHIM综合征的头癣患者,该患者对多种全身性抗真菌治疗长达10多年均无反应。该患者顽固的癣感染在用泊沙康唑治疗后最终治愈。这些发现表明,WHIM综合征中的缺陷可能使患者易患皮肤癣菌感染。