R77Q and Q3R HIV1-VPR mutations in an otherwise asymptomatic 5-year-old child with repeated ear infections

Rui Soares; Graça Rocha; Célia Nogueira; António Meliço-Silvestre; Teresa Gonçalves

doi:10.1099/jmmcr.0.002709

R77Q and Q3R HIV1-VPR mutations in an otherwise asymptomatic 5-year-old child with repeated ear infections

JMM Case Rep. 2014 Dec 1;1(4):e002709. doi: 10.1099/jmmcr.0.002709. eCollection 2014 Dec.

Authors

Rui Soares^{1

2}, Graça Rocha^{1

3}, Célia Nogueira¹, António Meliço-Silvestre^{1

4}, Teresa Gonçalves^{1

2}

Affiliations

¹ Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
² Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, Portugal.
³ Hospital Pediátrico de Coimbra, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
⁴ Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.

Abstract

Introduction: Viral protein R (Vpr) of human immunodeficiency virus type 1 (HIV-1) has been described as being involved in the progression of AIDS, and specific mutations are associated with long-term non-progressor patients.

Case presentation: We describe the case of a child with repeated ear infections who was otherwise healthy. The patient, a 5-year-old boy, was HIV-1 positive and the viral load at admission was 1 073 899 RNA copies ml^-1 and 0 % CD4⁺ lymphocytes. A detailed study of the vpr gene sequence of the child revealed mutations leading to amino acid substitutions at positions 3 and 77.

Conclusion: The case reported provides clinical support of previous findings that show that the R77Q and Q3R HIV-1 Vpr variants are associated with patients with delayed disease progression.

Keywords: AIDS/HIV-1; HAART; Vpr mutation; asymptomatic; long-term non-progressor.