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dc.contributor.author
Silvera Ruiz, Silene Maite
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dc.contributor.author
Corinne Gemperle
dc.contributor.author
Peano, Natalia
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dc.contributor.author
Olivero, Valentina
dc.contributor.author
Becerra, Adriana Berónica
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dc.contributor.author
Häberle, Johannes
dc.contributor.author
Gruppi, Adriana
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dc.contributor.author
Laróvere, Laura Elena
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dc.contributor.author
Motrich, Ruben Dario
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dc.date.available
2023-08-02T17:08:25Z
dc.date.issued
2022-05-27
dc.identifier.citation
Silvera Ruiz, Silene Maite; Corinne Gemperle; Peano, Natalia; Olivero, Valentina; Becerra, Adriana Berónica; et al.; Immune alterations in a patients with Hyperornithinemia-hyperammonemia -homocitrullinuria syndrome: A case report; Frontiers Media SA; Frontiers in Immunology; 13; 27-5-2022; 1-10
dc.identifier.uri
http://hdl.handle.net/11336/206588
dc.description.abstract
The 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 showed a reduction in the gamma globulin fraction. Direct sequencing of the SLC25A15 gene revealed two heterozygous non-conservative substitutions in the exon 5: c.649G>A (p.Gly217Arg) and c.706A>G (p.Arg236Gly). In silico analysis indicated that both mutations significantly impair protein structure and function and are consistent with the patient clinical status confirming the diagnosis of HHH syndrome. In addition, the immune analysis revealed reduced levels of serum IgG and striking phenotypic and functional alterations in the T and B cell immune compartments. Our study has identified two non-previously described mutations in the SLC25A15 gene underlying the HHH syndrome. Moreover, we are reporting for the first time functional and phenotypic immunologic alterations in this rare inborn error of metabolism that would render the patient immunocompromised and might be related to the high frequency of intercurrent infections observed in patients bearing urea cycle disorders. Our results point out the importance of a comprehensive analysis to gain further insights into the underlying pathophysiology of the disease that would allow better patient care and quality of life.Keywords: B cells; HHH syndrome; T cells; case report; hyperammonemia; immunodeficiency; infection; urea cycle defects.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Frontiers Media SA
dc.rights
info:eu-repo/semantics/restrictedAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
HYPERORNITHINEMIA
dc.subject
HYPERAMMONEMIA
dc.subject
HOMOCITRULLINURIA SYNDROME
dc.subject.classification
Hematología
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dc.subject.classification
Medicina Clínica
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dc.subject.classification
CIENCIAS MÉDICAS Y DE LA SALUD
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dc.title
Immune alterations in a patients with Hyperornithinemia-hyperammonemia -homocitrullinuria syndrome: A case report
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2023-07-07T22:00:30Z
dc.identifier.eissn
1664-3224
dc.journal.volume
13
dc.journal.pagination
1-10
dc.journal.pais
Suiza
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dc.description.fil
Fil: Silvera Ruiz, Silene Maite. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Córdoba. Centro de Investigaciones en Bioquímica Clínica e Inmunología; Argentina. Universidad Nacional de Córdoba. Facultad de Medicina. Centro de Estudios de las Metabolopatías Congénitas; Argentina
dc.description.fil
Fil: Corinne Gemperle. University Children’s Hospital Zurich. Division Of Metabolism And Children's Research Center; Suiza
dc.description.fil
Fil: Peano, Natalia. Fundación Para El Progreso de la Medicina; Argentina
dc.description.fil
Fil: Olivero, Valentina. Fundación Para El Progreso de la Medicina; Argentina
dc.description.fil
Fil: Becerra, Adriana Berónica. Gobierno de la Provincia de Córdoba. Ministerio de Salud. Hospital de Niños de la Santísima Trinidad; Argentina
dc.description.fil
Fil: Häberle, Johannes. University Children’s Hospital Zurich. Division Of Metabolism And Children's Research Center; Suiza
dc.description.fil
Fil: Gruppi, Adriana. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Córdoba. Centro de Investigaciones en Bioquímica Clínica e Inmunología; Argentina
dc.description.fil
Fil: Laróvere, Laura Elena. Universidad Nacional de Córdoba. Facultad de Medicina. Centro de Estudios de las Metabolopatías Congénitas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
dc.description.fil
Fil: Motrich, Ruben Dario. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Córdoba. Centro de Investigaciones en Bioquímica Clínica e Inmunología; Argentina
dc.journal.title
Frontiers in Immunology
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.3389/fimmu.2022.861516
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://www.frontiersin.org/articles/10.3389/fimmu.2022.861516/full
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