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

Donato Rigante, Valentina Giorgio, Giuseppe Zampino, Chiara Leoni, Roberta Onesimo, Assunta Tornesello, Emilia Stellacci, Francesca Clementina Radio, Simone Pizzi, Marco Tartaglia

Risultato della ricerca: Contributo in rivistaArticolo in rivista

2 Citazioni (Scopus)

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.
Lingua originaleEnglish
pagine (da-a)64-65
Numero di pagine2
RivistaImmunology Letters
Volume2020
DOI
Stato di pubblicazionePubblicato - 2020

Keywords

  • Autoinflammation
  • Developmental delay

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