PURPOSE Autosomal recessive (AR) CARD9 deficiency is an inherited immune disorder which results in impaired innate immunity against various fungi. Superficial and invasive fungal infections, mainly caused by Candida or Trichophyton species, are the hallmark of CARD9 deficiency. Together with the increasing number of CARD9-deficient patients reported, different pathogenic fungal species have been described such as Phialophora, Exophiala, Corynespora, Aureobasidium, and Ochroconis. Saprochaete capitata is an opportunistic infectious agent in immunocompromised patients and is a common cause of invasive fungal disease in patients with hematological malignancies. In this study, we investigated the causative genetic defect in a patient with S. capitata fungal infection which disseminated to lymph nodes and common bile duct. METHODS The identification of the isolated yeast strain was made by direct microscopic examination and confirmed by internal transcribed spacer (ITS) sequencing. We applied whole exome sequencing to search for the disease-causing mutation. Sanger sequencing was used to validate the mutation in the patient and his parents. RESULTS S. capitata was isolated from the biopsy specimen as the causative microorganism responsible for the invasive fungal disease in the patient. Whole exome sequencing revealed a homozygous c.883C > T, (p.Q295*) mutation in CARD9, confirmed by Sanger sequencing. CONCLUSIONS This is the first report of invasive Saprochaete infection associated with autosomal recessive (AR) CARD9 deficiency in the literature and thereby further extends the spectrum of fungal diseases seen in these patients.

中文翻译：

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常染色体隐性 CARD9 缺乏症患者的侵入性头型腐生菌感染和文献综述。

目的常染色体隐性 (AR) CARD9 缺陷是一种遗传性免疫疾病，可导致对各种真菌的先天免疫受损。浅表和侵袭性真菌感染，主要由念珠菌或毛癣菌引起，是 CARD9 缺乏的标志。随着报告的 CARD9 缺陷患者数量不断增加，不同的致病真菌种类已被描述，例如 Phialophora、Exophiala、Corynespora、Aureobasidium 和 Ochroconis。Saprochaete capitalata 是免疫功能低下患者的机会性感染因子，是血液系统恶性肿瘤患者侵袭性真菌病的常见原因。在这项研究中，我们调查了传播到淋巴结和胆总管的 S. capita 真菌感染患者的致病基因缺陷。方法通过直接显微镜检查和内部转录间隔（ITS）测序确认分离的酵母菌株。我们应用全外显子组测序来寻找致病突变。桑格测序用于验证患者及其父母的突变。结果 从活检标本中分离出 S.capitata 作为导致患者侵袭性真菌病的致病微生物。全外显子组测序显示 CARD9 中存在纯合 c.883C > T, (p.Q295*) 突变，Sanger 测序证实。结论 这是文献中首次报道与常染色体隐性 (AR) CARD9 缺陷相关的侵袭性腐生菌感染，从而进一步扩展了这些患者中发现的真菌疾病的范围。