Prognostic value of a CCR5 defective allele in pediatric HIV-1 infection.

M. L. Romiti, C. Colognesi, C. Cancrini, A. Mas, M. Berrino, F. Salvatori, P. Orlandi, M. Jansson, E. Palomba, A. Plebani, J. M. Bertran, M. Hernandez, M. de Martino, A. Amoroso, P. A. Tovo, P. Rossi, T. Espanol, G. Scarlatti

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)28-36
Number of pages9
JournalMolecular medicine (Cambridge, Mass.)
Issue number1
Publication statusPublished - Jan 2000

ASJC Scopus subject areas

  • Genetics


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