患者γ干扰素受体 1 缺陷致系统性曲霉病；病例报告。
Systemic aspergillosis in a patient with interferon gamma receptor 1 deficiency; a case report.
机构信息
Division of Allergy and Clinical Immunology, Department of Pediatrics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
Allergy Research Center, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
出版信息
BMC Pediatr. 2023 Jun 5;23(1):278. doi: 10.1186/s12887-023-04093-z.
BACKGROUND
Interferon-gamma receptor deficiency is a heterogeneous spectrum of disease which involves mutations in IFNGR1, IFNGR2 genes, and the downstream signaling proteins such as STAT1. These mutations are associated with immunodeficiency 27 A and 27B, making the patient prone to mycobacterial infections. Patients with this condition are also at increased risk for affliction with viral and bacterial infections, such as with the Herpesviridae family, Listeria, and Salmonella. Moreover, SH2B3 mutation is associated with autoimmune and lymphoproliferative conditions.
CASE PRESENTATION
the patient was a 19-month-old infant girl who presented with a two-week history of fever. She had near-normal flowcytometry with high IgM and IgE. She had pneumonic infiltration in her chest and right hilar and para-aortic lymphadenopathy. PCR of whole blood for Aspergillus fumigatus came back positive. In her Whole Exome Sequencing she had IFNGR1 and SH2B3 mutations.
CONCLUSION
systemic fungal infections such as Aspergillosis can occur in patients with interferon-gamma receptor one deficiency. This type of immunodeficiency should be considered in treating patients with systemic Aspergillosis.
背景
γ干扰素受体缺陷是一种疾病的异质谱，涉及 IFNGR1、IFNGR2 基因以及下游信号蛋白如 STAT1 的突变。这些突变与免疫缺陷 27A 和 27B 有关，使患者容易感染分枝杆菌。患有这种疾病的患者也更容易受到病毒和细菌感染的影响，如疱疹病毒科、李斯特菌和沙门氏菌。此外，SH2B3 突变与自身免疫和淋巴增生性疾病有关。
病例介绍
患者是一名 19 个月大的女婴，因发热两周就诊。她的流式细胞术接近正常，IgM 和 IgE 水平较高。她的胸部有肺炎浸润，右肺门和腹主动脉旁淋巴结肿大。全血曲霉 PCR 检测结果为阳性。她的全外显子测序显示 IFNGR1 和 SH2B3 突变。
结论
系统性真菌感染，如曲霉病，可发生在γ干扰素受体 1 缺陷患者中。在治疗系统性曲霉病时应考虑这种类型的免疫缺陷。
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