Talaromyces marneffei infection with IFNGR1 gene mutation in a patient with negative Anti-Interferon-γ autoantibodies.

BACKGROUND: 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. OBJECTIVE: 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. METHODS: 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. RESULTS: 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). STUDY LIMITATIONS: The mechanism of the IFNGR1 gene has not been further investigated in this study. CONCLUSIONS: 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.

Talaromyces marneffei infection with IFNGR1 gene mutation in a patient with negative Anti-Interferon-γ autoantibodies

Abstract Background 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. Objective 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. Methods 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. Results 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). Study limitations The mechanism of the IFNGR1 gene has not been further investigated in this study. Conclusions 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.

Validation of the gravity model in predicting the global spread of influenza.

The gravity model is often used in predicting the spread of influenza. We use the data of influenza A (H1N1) to check the model's performance and validation, in order to determine the scope of its application. In this article, we proposed to model the pattern of global spread of the virus via a few important socio-economic indicators. We applied the epidemic gravity model for modelling the virus spread globally through the estimation of parameters of a generalized linear model. We compiled the daily confirmed cases of influenza A (H1N1) in each country as reported to the WHO and each state in the USA, and established the model to describe the relationship between the confirmed cases and socio-economic factors such as population size, per capita gross domestic production (GDP), and the distance between the countries/states and the country where the first confirmed case was reported (i.e., Mexico). The covariates we selected for the model were all statistically significantly associated with the global spread of influenza A (H1N1). However, within the USA, the distance and GDP were not significantly associated with the number of confirmed cases. The combination of the gravity model and generalized linear model provided a quick assessment of pandemic spread globally. The gravity model is valid if the spread period is long enough for estimating the model parameters. Meanwhile, the distance between donor and recipient communities has a good gradient. Besides, the spread should be at the early stage if a single source is taking into account.