Biallelic loss-of-function variants in the TRNT1 gene have been associated with a mitochondrial cytopathy impairing neuronal cell development and heme synthesis, named SIFD. The disease is commonly characterized by developmental delay and sideroblastic anemia and also panhypogammaglobulinemia. We herein report a child with two rare and functionally relevant variants in the TRTN1 gene, who had mild facial dysmorphisms, hypogammaglobulinaemia diagnosed at 6 months and a longlasting history of recurrent fevers; no sideroblastic anemia was found in this patient. The reason for the selective decrease in B cells in SIFD is not known, but hypogammaglobulinaemia may be a striking feature which heralds a more complex disorder characterized by neurologic impairment and bouts of inflammation.

Rigante, D., Stellacci, E., Leoni, C., Onesimo, R., Radio, F., Pizzi, S., Giorgio, V., Tornesello, A., Tartaglia, M., Zampino, G., Biallelic TRNT1 variants in a child with B cell immunodeficiency, periodic fever and developmental delay without sideroblastic anemia (SIFD variant), <<IMMUNOLOGY LETTERS>>, 2020; 2020 (225): 64-65. [doi:10.1016/j.imlet.2020.06.012] [http://hdl.handle.net/10807/158703]

Biallelic TRNT1 variants in a child with B cell immunodeficiency, periodic fever and developmental delay without sideroblastic anemia (SIFD variant)

Rigante, D;Leoni, C;Onesimo, R;Giorgio, V;Tornesello, A;Zampino, G
2020

Abstract

Biallelic loss-of-function variants in the TRNT1 gene have been associated with a mitochondrial cytopathy impairing neuronal cell development and heme synthesis, named SIFD. The disease is commonly characterized by developmental delay and sideroblastic anemia and also panhypogammaglobulinemia. We herein report a child with two rare and functionally relevant variants in the TRTN1 gene, who had mild facial dysmorphisms, hypogammaglobulinaemia diagnosed at 6 months and a longlasting history of recurrent fevers; no sideroblastic anemia was found in this patient. The reason for the selective decrease in B cells in SIFD is not known, but hypogammaglobulinaemia may be a striking feature which heralds a more complex disorder characterized by neurologic impairment and bouts of inflammation.
Inglese
Rigante, D., Stellacci, E., Leoni, C., Onesimo, R., Radio, F., Pizzi, S., Giorgio, V., Tornesello, A., Tartaglia, M., Zampino, G., Biallelic TRNT1 variants in a child with B cell immunodeficiency, periodic fever and developmental delay without sideroblastic anemia (SIFD variant), <<IMMUNOLOGY LETTERS>>, 2020; 2020 (225): 64-65. [doi:10.1016/j.imlet.2020.06.012] [http://hdl.handle.net/10807/158703]
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10807/158703
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