Case of Mitochondrial Encephalomyopathy secondary to COVID-19 in a Pediatric case of SIFD syndrome with a novel TRNT1 mutation-Reference-Cited by-同舟云学术

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Case of Mitochondrial Encephalomyopathy secondary to COVID-19 in a Pediatric case of SIFD syndrome with a novel TRNT1 mutation

Published:2024-06 Issue: Volume:5 Page:26-29
ISSN:2772-6134
Container-title:Clinical Immunology Communications
language:en
Short-container-title:Clinical Immunology Communications

Author:

Khojah Amer^ORCID,Gunderman Lauren,Bukhari Ameera,Mirza Aisha^ORCID,Schutt Madeline^ORCID,Ahmed Aisha

Publisher

Elsevier BV

Reference16 articles.

1. Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

2. A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD)

3. The 3′ addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1

4. Identification and Characterization of Mammalian Mitochondrial tRNA nucleotidyltransferases

5. CCA addition to tRNA: Implications for tRNA quality control

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