Phenotypic and functional immune alterations in a patient with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.

SILENE M. SILVERA RUIZ; CORINNE GEMPERLE; NATALIA PEANO; VALENTINA OLIVERO; ADRIANA BECERRA; JOHANNES HÄBERLE; ADRIANA GRUPPI; L.E. LARÓVERE; RUBEN D MOTRICH

Frontiers in Immunology

Frontiers

Año: 2022

1664-3224

he hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rareautosomal recessive inborn error of the urea cycle caused by mutations in theSLC25A15 gene. Besides the well-known metabolic complications, patients oftenpresent intercurrent infections associated with acute hyperammonemia and metabolicdecompensation. However, it is currently unknown whether intercurrent infections areassociated with immunological alterations besides the known metabolic imbalances.Herein, we describe the case of a 3-years-old girl affected by the HHH syndrome causedby two novel SLC25A15 gene mutations associated with immune phenotypic andfunctional alterations. She was admitted to the hospital with an episode of recurrentotitis, somnolence, confusion, and lethargy. Laboratory tests revealed severehyperammonemia, elevated serum levels of liver transaminases, hemostasis alterations,hyperglutaminemia and strikingly increased orotic aciduria. Noteworthy, serum proteinelectrophoresis showed a red