Department of Dermatology, The First Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, China.
Department of Dermatology, The First Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, China.
An Bras Dermatol. 2024 Mar-Apr;99(2):233-237. doi: 10.1016/j.abd.2023.03.006. Epub 2023 Nov 3.
Talaromyces Marneffei (TM) is a rare opportunistic pathogen that mostly infects patients with low immunity compared to those with normal immunity. It may be related to immune deficiency or genetic factors.
To evaluate the gene mutation of a patient infected with TM in an endemic area with negative anti-interferon-γ autoantibodies, and negative human immunodeficiency virus (HIV) infection.
Extract deoxyribonucleic acid (DNA) samples from the patient's peripheral blood, detect the mutation gene by whole exome sequencing (WES), and carry out Sanger sequencing verification for the detected mutation gene.
The authors detected a mutation in the IFNGR1 gene (NM_001363526.1) and validated the detected gene mutation using Sanger sequencing. The results showed a heterozygous mutation c.4C>T (p.L2F) located in the IFNGR1 gene (NM_001363526.1).
The mechanism of the IFNGR1 gene has not been further investigated in this study.
The IFNGR1 gene mutation may be a potential risk factor for TM infection, and the presence of anti-interferon-γ autoantibodies can aggravate disease symptoms.
马尔尼菲篮状菌（TM）是一种罕见的机会致病菌，与正常免疫的患者相比，它主要感染免疫低下的患者。它可能与免疫缺陷或遗传因素有关。
评估在一个抗干扰素-γ自身抗体阴性、人类免疫缺陷病毒（HIV）感染阴性的地方性流行地区感染 TM 的患者的基因突变情况。
从患者外周血中提取脱氧核糖核酸（DNA）样本，通过全外显子组测序（WES）检测突变基因，并对检测到的突变基因进行 Sanger 测序验证。
作者检测到 IFNGR1 基因（NM_001363526.1）的突变，并通过 Sanger 测序验证了检测到的基因突变。结果显示，IFNGR1 基因（NM_001363526.1）中存在位于 c.4C>T（p.L2F）的杂合突变。
本研究未进一步探讨 IFNGR1 基因的机制。
IFNGR1 基因突变可能是 TM 感染的潜在危险因素，而抗干扰素-γ自身抗体的存在可能会加重疾病症状。
