1.Virome in immunodeficiency: what we know currently.
Hu WANG ; Siqi XU ; Shuang LI ; Bin SU ; Scott SHERRILL-MIX ; Guanxiang LIANG
Chinese Medical Journal 2023;136(22):2647-2657
Over the past few years, the human virome and its complex interactions with microbial communities and the immune system have gained recognition as a crucial factor in human health. Individuals with compromised immune function encounter distinctive challenges due to their heightened vulnerability to a diverse range of infectious diseases. This review aims to comprehensively explore and analyze the growing evidence regarding the role of the virome in immunocompromised disease status. By surveying the latest literature, we present a detailed overview of virome alterations observed in various immunodeficiency conditions. We then delve into the influence and mechanisms of these virome changes on the pathogenesis of specific diseases in immunocompromised individuals. Furthermore, this review explores the clinical relevance of virome studies in the context of immunodeficiency, highlighting the potential diagnostic and therapeutic gains from a better understanding of virome contributions to disease manifestations.
Humans
;
Viruses
;
Virome
;
Microbiota
;
Immunologic Deficiency Syndromes
3.Progress on the diagnosis and therapy about atopic diseases and primary immunodeficiency diseases.
Zhou Xian PAN ; Ying Yang XU ; Sai Nan BIAN ; Ji LI ; Yu Lin JIANG ; Ji LI ; Kai GUAN
Chinese Journal of Preventive Medicine 2022;56(9):1218-1225
Primary immunodeficiency diseases (PID) is a congenital disease caused by single gene germline mutation related to the immune system. PID patients have immune dysregulation, and are susceptible to infectious diseases, autoimmune diseases, autoimmune diseases, allergic diseases, and malignant tumors. The first symptom of some PID patients is atopic disease, therefore they go to the department of allergy, department of pediatrics and other relevant departments. How to identify and diagnose PID in allergic patients, to reduce diagnosis delay and prevent disease aggravation are the abilities that allergists, pediatricians, and doctors in other relevant departments need to master. This article summarizes the warning signs of PID in allergic patients and the mechanism of allergy combined with PID, and then summarizes the common types of PID in allergic patients, the evaluation, treatment and prevention in patients with PID and allergy.
Autoimmune Diseases
;
Child
;
Humans
;
Hypersensitivity/therapy*
;
Immunologic Deficiency Syndromes/therapy*
;
Primary Immunodeficiency Diseases/therapy*
4.Detection and clinical application of HIV-1 DNA.
Li Juan DONG ; Hui Chao CHEN ; Yan Ling MA ; Wenge XING
Chinese Journal of Epidemiology 2022;43(10):1685-1690
The persistence of the HIV-1 reservoir is still the main obstacle to the cure of HIV. In clinical research, reliable biomarkers are needed to label it. HIV-1 DNA can be continuously detected in the HIV-1 reservoir. It has significant application value in diagnosing HIV-1 infection, the timing of antiretroviral therapy, the prediction of virus rebound, and monitoring treatment effects. The detection technology based on polymerase chain reaction (PCR) is the most commonly used HIV-1 DNA detection method in clinical practice. The continuous innovation and advancement of technology can accurately detect the total, integrated, and unintegrated HIV-1 DNA in infected cells using qualitative or quantitative methods. Different forms of HIV-1 DNA in infected cells have been increasingly reported as biomarkers in HIV infection monitoring and AIDS treatment-related research. This article reviews the progress of HIV-1 DNA.
Humans
;
HIV-1/genetics*
;
HIV Infections/diagnosis*
;
DNA
;
Polymerase Chain Reaction
;
HIV Seropositivity
6.Clinical effect of allogeneic hematopoietic stem cell transplantation in children with hyper-IgM syndrome.
Zi-Qi WANG ; Yan MENG ; Ying DOU ; Xian-Min GUAN ; Lu-Ying ZHANG ; Jie YU
Chinese Journal of Contemporary Pediatrics 2022;24(6):635-642
OBJECTIVES:
To evaluate the clinical effect of allogeneic hematopoietic stem cell transplantation (allo-HSCT) in children with hyper-IgM syndrome (HIGM).
METHODS:
A retrospective analysis was performed on the medical data of 17 children with HIGM who received allo-HSCT. The Kaplan Meier method was used for the survival analysis of the children with HIGM after allo-HSCT.
RESULTS:
After allo-HSCT, 16 children were diagnosed with sepsis; 14 tested positive for virus within 100 days after allo-HSCT, among whom 11 were positive for Epstein-Barr virus, 7 were positive for cytomegalovirus, and 2 were positive for JC virus; 9 children were found to have invasive fungal disease. There were 6 children with acute graft-versus-host disease and 3 children with chronic graft-versus-host disease. The median follow-up time was about 2 years, and 3 children died in the early stage after allo-HSCT. The children had an overall survival (OS) rate of 82.35%, an event-free survival (EFS) rate of 70.59%, and a disease-free survival (DFS) rate of 76.47%. The univariate analysis showed that the children receiving HLA-matched allo-HSCT had a significantly higher EFS rate than those receiving HLA-mismatched allo-HSCT (P=0.019) and that the children receiving HLA-matched unrelated allo-HSCT had significantly higher OS, EFS, and DFS rates than those receiving HLA-mismatched unrelated allo-HSCT (P<0.05). Compared with the children with fungal infection after allo-HSCT, the children without fungal infection had significantly higher EFS rate (P=0.02) and DFS rate (P=0.04).
CONCLUSIONS
Allo-HSCT is an effective treatment method for children with HIGM. HLA-matched allo-HSCT and active prevention and treatment of fungal infection and opportunistic infection may help to improve the prognosis of such children.
Child
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Epstein-Barr Virus Infections
;
Graft vs Host Disease/prevention & control*
;
Hematopoietic Stem Cell Transplantation/methods*
;
Herpesvirus 4, Human
;
Humans
;
Hyper-IgM Immunodeficiency Syndrome
;
Retrospective Studies
7.Analysis of HIV-1 genetic subtype and pretreatment drug resistance among men who have sex with men infected with HIV-1 from 19 cities of 6 provinces in China.
Ran ZHANG ; Ting Li DONG ; Wen Li LIANG ; Zhao Bing CAO ; Zhen XIE ; Kang Mai LIU ; Fei YU ; Geng Feng FU ; Yu Qi ZHANG ; Guo Yong WANG ; Qiao Qin MA ; Shao Bin WU ; Yan LI ; Wei DONG ; Zhen JIANG ; Jie XU ; Zun You WU ; Jun YAO ; Pin Liang PAN ; Mao Feng QIU
Chinese Journal of Epidemiology 2022;43(4):523-527
Objective: To investigate the distribution of HIV-1 genetic subtypes and pretreatment drug resistance (PDR) among men who have sex with men (MSM) from 19 cities of 6 provinces in China. Methods: From April to November 2019, 574 plasma samples of ART-naive HIV-1 infected MSM were collected from 19 cities in Hebei, Shandong, Jiangsu, Zhejiang, Fujian, and Guangdong provinces, total ribonucleic acid (RNA) was extracted and amplified the HIV-1 pol gene region by nested polymerase chain reaction (PCR) after reverse transcription. Then sequences were used to construct a phylogenetic tree to determine genetic subtypes and submitted to the Stanford drug resistance database for drug resistance analysis. Results: A total of 479 samples were successfully amplified by PCR. The HIV-1 genetic subtypes included CRF01_AE, CRF07_BC, B, CRF55_01B, CRF59_01B, CRF65_cpx, CRF103_01B, CRF67_01B, CRF68_01B and unrecognized subtype, which accounted for 43.4%, 36.3%, 6.3%, 5.9%, 0.8%, 0.8%, 0.4%, 0.4%, 0.2% and 5.5%, respectively. The distribution of genetic subtypes among provinces is statistically different (χ2=44.141, P<0.001). The overall PDR rate was 4.6% (22/479), the drug resistance rate of non-nucleoside reverse transcriptase inhibitors, nucleoside reverse transcriptase inhibitors, and protease inhibitors were 3.5% (17/479), 0.8% (4/479) and 0.2% (1/479), respectively. The PDR rate of recent infections was significantly higher than that of long-term infections (χ2=4.634, P=0.031). Conclusions: The HIV-1 genetic subtypes among MSM infected with HIV-1 from 19 cities of 6 provinces in China are diverse, and the distribution of subtypes is different among provinces. The overall PDR rate is low, while the PDR rate of recent infections was significantly higher than that of long-term infections, suggesting the surveillance of PDR in recent infections should be strengthened.
China/epidemiology*
;
Cities
;
Drug Resistance
;
Drug Resistance, Viral/genetics*
;
Female
;
Genotype
;
HIV Infections/epidemiology*
;
HIV Seropositivity/drug therapy*
;
HIV-1/genetics*
;
Homosexuality, Male
;
Humans
;
Male
;
Phylogeny
;
Reverse Transcriptase Inhibitors/therapeutic use*
;
Sexual and Gender Minorities
8.Dynamic changes and influencing factors of HIV-1 DNA load in HIV-1 infected individuals under antiretroviral therapy.
Ji Bao WANG ; Kai CHEN ; Xiao Xia HE ; Yu Rong GONG ; Jin YANG ; Xing DUAN ; Yi Kui WANG ; Yue Cheng YANG ; Run Hua YE ; Yan JIANG ; Song DUAN ; Wen Ge XING
Chinese Journal of Epidemiology 2022;43(5):692-695
Objective: To analyze the dynamic changes and influencing factors of HIV-1 DNA load in HIV-1 infected individuals under antiretroviral therapy (ART) in Dehong Dai and Jingpo autonomous prefecture, Yunnan province, and provide information support for the clinical use of HIV-1 DNA quantitative detection. Methods: The HIV infection cases in recent infection cohort from Dehong Center for Disease Control and Prevention during 2009-2018 were selected as study subjects. The dynamic curve of HIV-1 DNA load varrying with time was generated and logistic regression analysis was conducted to identify the risk factors for HIV-1 load in the recent follow up after ART and statistical analysis was performed by using SPSS 17.0. Results: Among the 113 HIV infection cases detected from the recent infection cohort, the recent HIV infection rate were 49.6%(56/113) males, sexual transmission cases and drug injection transmission cases accounted for 53.1% (60/113), 80.5% (91/113) and 19.5% (22/113), respectively. The dynamic changes curve showed that HIV-1 DNA load was relatively high (>800 copies /106 PBMCs) before ART, and droped rapidly (<400 copies /106 PBMCs) after ART for 1 year. However, HIV-1 DNA load decreased insignificantly from the second year of ART, and remained to be 269 copies/106 PBMCs after ART for 6 years. Univariable logistic regression analysis indicated that OR (95%CI) of CD8, CD4/CD8 and HIV-1 DNA load were 1.00 (1.00-1.00), 0.30 (0.09-1.05) and 1.01 (1.00-1.01), respectively. Multivariable logistic regression analysis showed that OR value of HIV-1 DNA load base was 1.00 (1.00-1.01). Conclusions: HIV-1 DNA load decreased significantly in the first year of ART, then remained stable for years. HIV-1 DNA load base was the key factor associated with the decrease of HIV-1 DNA load, the lower the HIV-1 DNA load base, the lower HIV-1 DNA load. Therefore, earlier ART can contribute to the decrease of HIV-1 DNA load.
China/epidemiology*
;
DNA/therapeutic use*
;
HIV Infections/drug therapy*
;
HIV Seropositivity
;
HIV-1/genetics*
;
Humans
;
Male
;
Viral Load
10.Clinical and genetic analysis of a child with Majeed syndrome.
Liwei SUN ; Pingli ZHANG ; Yang SONG ; Feng LIU ; Qikun HUANG
Chinese Journal of Medical Genetics 2021;38(8):775-778
OBJECTIVE:
To explore the clinical feature, diagnosis and phenotype of Majeed syndrome.
METHODS:
Clinical manifestation, diagnostic process, imaging feature and genetic testing of an ethnic Han Chinese patient with Majeed syndrome were reviewed.
RESULTS:
The patient, a 3-year-9-month-old boy, had featured psychomotor retardation and developed bone pain from 8 month on. The child had tenderness of the lower limbs and presented with repeatedly joint swelling and pain accompanied by fever. Physical signs included limb muscle weakening, slightly decreased muscle tone, reduced muscle volume and positive Gower sign. High-throughput sequencing revealed that the child has carried compound heterozygous variants of the LPIN2 gene, including c.1966A>G and c.2534delG. MRI showed multiple lesions in bilateral knee joints and distal middle tibia presenting as patchy SPAIR high signals with unclear edge, in addition with edema of soft tissue surrounding the right distal femur.
CONCLUSION
Majeed syndrome is characterized by chronic and recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and growth retardation. Surrounding muscle tissue of osteomyelitis may also be involved. The syndrome may also affect the central nervous system, resulting in delayed language and motor development. Discovery of multiple pathological variants of the LPIN2 gene suggested that the clinical phenotype of this syndrome may vary between patients to some extent.
Anemia, Dyserythropoietic, Congenital/genetics*
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Child
;
Genetic Testing
;
Humans
;
Immunologic Deficiency Syndromes/genetics*
;
Infant
;
Male
;
Osteomyelitis/genetics*

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