Nazarian Rosalynn M, Lilly Evelyn, Gavino Christina, Hamilos Daniel L, Felsenstein Donna, Vinh Donald C, Googe Paul B
Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
Department of Dermatology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
J Cutan Pathol. 2020 Feb;47(2):166-170. doi: 10.1111/cup.13574. Epub 2019 Oct 29.
Caspase Recruitment Domain Family Member 9 (CARD9) is an adaptor molecule that drives antifungal activity of macrophages and neutrophils in the skin. Autosomal recessive loss-of-function mutations in CARD9 confer increased susceptibility to invasive disease with select fungi in non-immunosuppressed patients. We report on a patient with X-linked ichthyosis complicated by chronic cutaneous invasive dermatophyte infection. We identified a previously reported c.271T>C (p.Y91H) mutation and a novel intronic c.1269+18G>A mutation in CARD9 underlying recurrent deep dermatophytosis in this patient despite various antifungals for over three decades. Our case highlights susceptibility to invasive dermatophytosis related to autosomal recessive CARD9 deficiency and illustrates the range of CARD9 mutations to be pursued in immunocompetent patients with unexplained deep dermatophyte infections. Further studies are needed to define the best therapeutic regimen.
半胱天冬酶招募结构域家族成员9（CARD9）是一种衔接分子，可驱动皮肤中巨噬细胞和中性粒细胞的抗真菌活性。CARD9的常染色体隐性功能丧失突变会使非免疫抑制患者对特定真菌的侵袭性疾病易感性增加。我们报告了一名患有X连锁鱼鳞病并伴有慢性皮肤侵袭性皮肤癣菌感染的患者。我们在该患者中发现了一个先前报道的CARD9基因c.271T>C（p.Y91H）突变和一个新的内含子c.1269+18G>A突变，尽管使用了各种抗真菌药物三十多年，该突变仍是该患者复发性深部皮肤癣菌病的病因。我们的病例突出了与常染色体隐性CARD9缺乏相关的侵袭性皮肤癣菌病易感性，并说明了在患有无法解释的深部皮肤癣菌感染的免疫功能正常患者中需要研究的CARD9突变范围。需要进一步研究以确定最佳治疗方案。
