Association of Chediak-Higashi Syndrome and Human Immunodeficiency Virus Type 1 Acute Infection

Abstract

Context: The Chediak-Higashi syndrome (CHS) is a rare autosomal and recessive disease associated with a genetic alteration of the lysosomal trafficking regulator (LYST) gene (CHS1/LYST). The LYST protein interacts with some cytoplasmic proteins that play an important role in vesicular transport regulation signal transduction that leads to a decreased phagocytosis, which results in recurrent pyogenic infections, partial albinism and peripheral neuropathy. The association between CHS and infection by human immunodeficiency virus type 1 (HIV-1) is rare. The aim of this study is to report the case of a patient with CHS and had incidental diagnosis of acute HIV-1 infection during hospitalization for treatment of a urological disorder.Case Report: An 18-year-old male with CHS presented a penile injury with a large foreskin lesion and areas of necrosis, bleeding, and fetid smelling. He reported risk factors associated with the transmission of HIV infection that was confirmed using serological and molecular tests. Although he had abandoned the combined antiretroviral therapy started after the HIV-1 infection diagnosis, the laboratory tests performed for monitoring the HIV-1 infection during the two-year follow-up showed no significant decline in the CD4 + T cell counts and no significant changes in the viral load.Conclusions: This case report emphasizes that patients with CHS are equally susceptible to HIV-1 infection; nonetheless, they may show slower viral replication and immune deterioration than individuals without CHS, which results in a slower clinical course of HIV-1 infection.