Université Paris Cité, Department of Infectious Diseases and Tropical Medicine, Necker - Enfants Malades University Hospital, Assistance Publique - Hôpitaux de Paris (AP-HP), IHU Imagine, Paris, France.
MRC Centre for Medical Mycology, University of Exeter, Exeter, UK; Department of Paediatric Infectious Diseases, Great Ormond Street Hospital London, London, UK.
Curr Opin Infect Dis. 2024 Dec 1;37(6):464-473. doi: 10.1097/QCO.0000000000001062. Epub 2024 Sep 3.
We review the clinical presentations of invasive fungal infections in a selection of inborn errors of immunity. In addition, we review the particularities of their management, including antifungal therapy, prophylaxis, and immunomodulatory treatments.
Patients with chronic granulomatous disease and with signal transducer and activator of transcription 3 (STAT3) deficiency are particularly prone to aspergillosis. Mold-active antifungal prophylaxis should be prescribed to all patients with chronic granulomatous disease, and in patients with STAT3 deficiency and underlying parenchymal lung disease. Invasive fungal infections are rare in patients with STAT1 gain-of-function mutations, while the clinical phenotype of caspase-associated recruitment domain-containing protein 9 deficiency encompasses a wide range of superficial and invasive fungal infections. Most patients with inborn errors of immunity and invasive fungal infections require prolonged durations of antifungals. Hematopoietic stem cell transplantation should be considered early for patients with chronic granulomatous disease, but results have been more mixed for other inborn errors of immunity with active invasive fungal infections.
Inborn errors of immunity can confer increased susceptibility to a variety of invasive fungal infections, which can present with specific clinical and radiological features. Management of fungal infections in these patients is often challenging, and relies on a combination of antimicrobial prophylaxis, antifungal treatments, and immunomodulation.
我们在一组固有免疫缺陷中选择了侵袭性真菌感染的临床表现进行综述。此外，我们还回顾了它们的特殊管理，包括抗真菌治疗、预防和免疫调节治疗。
慢性肉芽肿病和信号转导与转录激活因子 3（STAT3）缺陷的患者特别容易发生曲霉菌病。应向所有慢性肉芽肿病患者和存在 STAT3 缺陷和潜在实质肺疾病的患者开具抗霉菌预防性抗真菌治疗。STAT1 功能获得性突变患者侵袭性真菌感染罕见，而天冬氨酸半胱氨酸蛋白酶相关募集域蛋白 9 缺陷的临床表型包括各种浅表和侵袭性真菌感染。大多数固有免疫缺陷和侵袭性真菌感染患者需要长期使用抗真菌药物。对于慢性肉芽肿病患者，应早期考虑造血干细胞移植，但对于其他有活性侵袭性真菌感染的固有免疫缺陷患者，结果则较为复杂。
固有免疫缺陷可增加对多种侵袭性真菌感染的易感性，这些感染可能具有特定的临床和影像学特征。这些患者的真菌感染的管理通常具有挑战性，需要结合抗菌预防、抗真菌治疗和免疫调节。
