Related Experiment Video
Updated: Oct 16, 2026

A Restriction Enzyme Based Cloning Method to Assess the In vitro Replication Capacity of HIV-1 Subtype C Gag-MJ4 Chimeric Viruses
Published on: August 31, 2014
Prognostic value of a CCR5 defective allele in pediatric HIV-1 infection
M L Romiti1, C Colognesi, C Cancrini
1Division of Immunology and Infectious Diseases, Children's Hospital Bambino Gesù, University of Rome Tor Vergata, Italy.
Insights
The CCR5 delta32 gene deletion is linked to slower HIV-1 disease progression in children. This genetic marker may help identify children who do not need immediate antiretroviral treatment.
Area of Science:
- Immunology
- Genetics
- Virology
Background:
- The CCR5 delta32 gene deletion is associated with reduced HIV-1 infection risk and delayed disease progression in adults.
- Understanding this mutation's role in pediatric HIV-1 is crucial for disease management.
Purpose of the Study:
- To investigate the impact of the CCR5 delta32 gene deletion on HIV-1 disease progression in children.
- To assess the CCR5 delta32 mutation's correlation with mother-to-child HIV-1 transmission and disease outcomes.
Main Methods:
- Polymerase chain reaction was used to genotype 301 HIV-1 infected, 262 HIV-1 exposed-uninfected, and 47 HIV-1 unexposed-uninfected children.
- HIV-1 infected children were classified as rapid or delayed progressors, including long-term non-progressors (LTNP).
- Viral phenotype analysis was performed on 45 delayed progressors.
Main Results:
- No association was found between CCR5 delta32 and mother-to-child HIV-1 transmission.
- The CCR5 delta32 deletion was significantly more frequent in long-term non-progressors (LTNP) compared to delayed and rapid progressors.
- In children with the CCR5 delta32 mutation, MT-2 tropic viruses correlated with severe immune suppression, while MT-2 negative viruses correlated with LTNP status.
Conclusions:
- The CCR5 delta32 mutation is associated with delayed HIV-1 disease progression in children.
- The CCR5 delta32 mutation may serve as a predictive marker for identifying children with slower disease progression.
- Identifying children with delayed progression could help guide decisions regarding the initiation of antiretroviral therapy.
Background:
A deletion of 32 base pairs in the CCR5 gene (delta32 CCR5) has been linked to resistance to HIV-1 infection in exposed adults and to the delay of disease progression in infected adults.
Materials And Methods:
To determine the role of delta32 CCR5 in disease progression of HIV-1 infected children born to seropositive mothers, we studied a polymerase chain reaction in 301 HIV-1 infected, 262 HIV-1 exposed-uninfected and 47 HIV-1 unexposed-uninfected children of Spanish and Italian origin. Infected children were further divided into two groups according to their rate of HIV-1 disease progression: rapid progressors who developed severe clinical and/or immunological conditions within the second year of life, and delayed progressors with any other evolution of disease. Among the latter were the long-term, non-progressors (LTNP) who presented with mild or no symptoms of HIV-1 infection above 8 years of age. Viral phenotype was studied for 45 delayed progressors.
Results:
No correlation was found between delta32 CCR5 and mother-to-child transmission of HIV-1. However, the frequency of the deletion was substantially higher in LTNP, compared with delayed (p = 0.019) and rapid progressors (p = 0.0003). In children carrying the delta32 CCRS mutation, the presence of MT-2 tropic virus isolate was associated with a severe immune suppression (p = 0.028); whereas, the presence of MT-2 negative viruses correlated with LTNP (p = 0.010).
Conclusions:
Given the rapidity and simplicity of the assay, the delta32 CCR5 mutation may be a useful predictive marker to identify children with delayed disease progression who, consequently, may not require immediate antiretroviral treatment.
Related Concept Videos
Retrovirus Life Cycles
Cryptococcal Meningitis
Immunodeficiency Diseases
There are three main causes of immunodeficiency disorders...

