Abnormalities in subsets of B and T cells in Mexican patients with inborn errors of propionate metabolism: observations from a single-center case series
Por:
Medina-Torrez, E. A., Vela-Amieva, M., Galindo-Campos, L., Ibarra-Gonzalez, I., Espinosa-Padilla, S., Guillen-Lopez, S., Lopez-Mejia, L., Fernandez-Lainez, C.
Publicada:
1 ene 2021
Resumen:
Background: Propionate inborn errors of metabolism (PIEM), including
propionic (PA) and methylmalonic (MMA) acidemias, are inherited
metabolic diseases characterized by toxic accumulation of propionic,
3-hydroxypropionic, methytcitric, and methylmalonic organic acids in
biological fluids, causing recurrent acute metabolic acidosis events and
encephalopathy, which can lead to fatal outcomes if managed
inadequately. PIEM patients can develop hematological abnormalities and
immunodeficiency, either as part of the initial clinical presentation or
as chronic complications. The origin and characteristics of these
abnormalities have been studied poorly. Thus, the aim of the present
work was to evaluate and describe lymphoid, myeloid, and erythroid cell
population profiles in a group of clinically stable PIEM patients.
Methods: This was a retrospective study of 11 nonrelated Mexican PIEM
patients. Clinical, biochemical, nutritional, hematological, and
lymphocyte subsets were analyzed.
Results: Despite being considered clinically stable, 91% of patients
had hematological or immunological abnormalities. The absolute
lymphocyte subset counts were tow in all patients but one, with CD4+
T-cell lymphopenia, being the most common one. Furthermore, of the 11
studied subjects, nine presented with a low CD4/CD8 ratio. Among the
observed hematological alterations, bicytopenia was the most common
(82%) one, followed by anemia (27%).
Conclusion: Our results contribute to the landscape of immunological
abnormalities observed previously in PIEM patients; these abnormalities
can become a life-threatening chronic complications because of the
increased risk of opportunistic diseases. These findings allow us to
propose the inclusion of monitoring immune biomarkers, such as subsets
of lymphocytes in the follow up of PIEM patients. (C) 2021 Codon
Publications. Published by Codon Publications.
Filiaciones:
Medina-Torrez, E. A.:
Inst Nacl Pediat, Secretaria Salud, Unidad Invest Inmunodeficiencias, Mexico City, DF, Mexico
Vela-Amieva, M.:
Secretaria Salud Mexico, Lab Errores Innatos Metab & Tamiz, Inst Nacl Pediat, Mexico City, DF, Mexico
Galindo-Campos, L.:
Secretaria Salud Mexico, Lab Errores Innatos Metab & Tamiz, Inst Nacl Pediat, Mexico City, DF, Mexico
Univ Nacl Autonoma Mexico, UNAM, Fac Quim, Mexico City, DF, Mexico
Ibarra-Gonzalez, I.:
Univ Nacl Autonoma Mexico, Inst Invest Biomed, Inst Nacl Pediat, Unidad Genet Nutr, Mexico City, DF, Mexico
Espinosa-Padilla, S.:
Inst Nacl Pediat, Secretaria Salud, Unidad Invest Inmunodeficiencias, Mexico City, DF, Mexico
Guillen-Lopez, S.:
Secretaria Salud Mexico, Lab Errores Innatos Metab & Tamiz, Inst Nacl Pediat, Mexico City, DF, Mexico
Lopez-Mejia, L.:
Secretaria Salud Mexico, Lab Errores Innatos Metab & Tamiz, Inst Nacl Pediat, Mexico City, DF, Mexico
Fernandez-Lainez, C.:
(Corresponding Author), Inst Nacl Pediat, Lab Errores Innatos Metab & Tamiz, Torre Invest,Av IMAN 1,Piso 9, Alcaldla Coyoacan 04530, Cdmx, Mexico
Secretaria Salud Mexico, Lab Errores Innatos Metab & Tamiz, Inst Nacl Pediat, Mexico City, DF, Mexico
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