Immune alterations in a patients with Hyperornithinemia-hyperammonemia -homocitrullinuria syndrome: a case report.

SILENE MAITE SILVERA-RUIZ; CORINNE GEMPERLE; NATALIA PEANO; OLIVERO V; BECERRA A; HÄBERLE J; GRUPPI A; LAROVERE LE; MOTRICH R

Frontiers in Immunology

Frontiers Media SA

Año: 2022

1664-3224

he hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive inborn error of the urea cycle caused by mutations in the SLC25A15 gene. Besides the well-known metabolic complications, patients often present intercurrent infections associated with acute hyperammonemia and metabolic decompensation. However, it is currently unknown whether intercurrent infections are associated with immunological alterations besides the known metabolic imbalances. Herein, we describe the case of a 3-years-old girl affected by the HHH syndrome caused by two novel SLC25A15 gene mutations associated with immune phenotypic and functional alterations. She was admitted to the hospital with an episode of recurrent otitis, somnolence, confusion, and lethargy. Laboratory tests revealed severe hyperammonemia, elevated serum levels of liver transaminases, hemostasis alterations, hyperglutaminemia and strikingly increased orotic aciduria. Noteworthy, serum protein electrophoresis