Associated Papers
Thalidomide as an Effective Treatment in Sideroblastic Anemia, Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD).
Li Y et al.
Journal of Clinical Immunology, 2023
Clinical and Therapeutic Aspects of Sideroblastic Anaemia with B-Cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) Syndrome: a Systematic Review.
Maccora I et al.
Journal of Clinical Immunology, 2023
Case report: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay: Three cases and a literature review.
Chen X et al.
Frontiers in Pediatrics, 2023
A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay.
Odom J et al.
American Journal of Medical Genetics. Part A, 2022
Etanercept as a successful therapy in autoinflammatory syndrome related to TRNT1 mutations: a case-based review.
Orlando F et al.
Clinical Rheumatology, 2021
Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
Miller CR et al.
Cold Spring Harbor Molecular Case Studies, 2020
Diseases Associated with Defects in tRNA CCA Addition.
Slade A et al.
International Journal of Molecular Sciences, 2020
Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.
McCreary D et al.
Jama Network Open, 2019
31664448 (PubMed )
Supplement: jamanetwopen-2-e1914274-s001.pdf
Comment on: 'Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors' by Giannelou et al: mutations in TRNT1 result in a constitutive activation of type I interferon signalling.
Frémond ML et al.
Annals of the Rheumatic Diseases, 2019
TRNT1 deficiency: clinical, biochemical and molecular genetic features.
Wedatilake Y et al.
Orphanet Journal of Rare Diseases, 2016
Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.
DeLuca AP et al.
Human Molecular Genetics, 2016
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).
Chakraborty PK et al.
Blood, 2014
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