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Article

A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay.

American journal of medical genetics. Part A - 1 Jan 2022

Odom John, Amin Hitha, Gijavanekar Charul, Elsea Sarah H, Kralik Stephen, Chinen Javier, Lin Yuezhen, Yates Amber Meshell Mayfield, Mizerik Elizabeth, Potocki Lorraine, Scaglia Fernando

Abstract excerpt

Sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD; MIM #616084) is an autosomal recessive disorder of mitochondrial and cytosolic tRNA processing caused by pathogenic, biallelic variants in TRNT1. Other features of this disorder include central nervous system, renal, cardiac, ophthalmological features, and sensorineural hearing impairment. SIFD was first described in 2013 and to...

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Identifiers

PMID: 34510712
DOI: 10.1002/ajmg.a.62482

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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