Immune alterations in a patient with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: a case report

SILVERA-RUIZ, SILENE M.; GEMPERLE, CORINNE; PEANO, NATALIA; OLIVERO, VALENTINA; BECERRA, ADRIANA; HABERLE, JOHANNES; GRUPPI, ADRIANA; LAROVERE, LAURA ELENA; MOTRICH, RUBEN DARIO

FRONTIERS IN IMMUNOLOGY

Frontiers Media

Año: 2022 vol. 13

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