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

Donato Rigante, Giuseppe Zampino, Chiara Leoni, Roberta Onesimo, Valentina Giorgio, Assunta Tornesello, E Stellacci, FC Radio, S Pizzi, M 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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