Etanercept as a successful therapy in autoinflammatory syndrome related to TRNT1 mutations: a case-based review-Reference-Cited by-同舟云学术

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Etanercept as a successful therapy in autoinflammatory syndrome related to TRNT1 mutations: a case-based review

Published:2021-03-01 Issue:10 Volume:40 Page:4341-4348
ISSN:0770-3198
Container-title:Clinical Rheumatology
language:en
Short-container-title:Clin Rheumatol

Author:

Orlando Francesca^ORCID,Naddei Roberta,Stellacci Emilia,Gallinoro Carlo Maria,Melis Daniela,Tartaglia Marco,Alessio Maria

Publisher

Springer Science and Business Media LLC

Subject

General Medicine,Rheumatology

Link

https://link.springer.com/content/pdf/10.1007/s10067-021-05653-3.pdf

Reference24 articles.

1. Sasarman F, Thiffault I, Weraarpachai W, Salomon S, Maftei C, Gauthier J, Ellazam B, Webb N, Antonicka H, Janer A, Brunel-Guitton C, Elpeleg O, Mitchell G, Shoubridge EA (2015) The 3′ addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1. Hum Mol Genet 24:2841–2847

2. Lizano E, Schuster J, Müller M, Kelso J, Mörl M (2007) A splice variant of the human CCA-adding enzyme with modified activity. J Mol Biol 366:1258–1265

3. Giannelou A, Wang H, Zhou Q, Park YH, Abu-Asab MS, Ylaya K, Stone DL, Sediva A, Sleiman R, Sramkova L, Bhatla D, Serti E, Tsai WL, Yang D, Bishop K, Carrington B, Pei W, Deuitch N, Brooks S, Edwan JH, Joshi S, Prader S, Kaiser D, Owen WC, Sonbul AA, Zhang Y, Niemela JE, Burgess SM, Boehm M, Rehermann B, Chae J, Quezado MM, Ombrello AK, Buckley RH, Grom AA, Remmers EF, Pachlopnik JM, Su HC, Gutierrez-Cruz G, Hewitt SM, Sood R, Risma K, Calvo KR, Rosenzweig SD, Gadina M, Hafner M, Sun HW, Kastner DL, Aksentijevich I (2018) Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors. Ann Rheum Dis 77:612–619

4. Barton C, Kausar S, Kerr D, Bitetti S, Wynn R (2018) SIFD as a novel cause of severe fetal hydrops and neonatal anaemia with iron loading and marked extramedullary haemopoiesis. J Clin Pathol 71:275–278

5. Chakraborty PK, Schmitz-Abe K, Kennedy EK, Mamady H, Naas T, Durie D, Campagna DR, Lau A, Sendamarai AK, Wiseman DH, May A, Jolles S, Connor P, Powell C, Heeney MM, Giardina PJ, Klaassen RJ, Kannengiesser C, Thuret I, Thompson AA, Marques L, Hughes S, Bonney DK, Bottomley SS, Wynn RF, Laxer RM, Minniti CP, Moppett J, Bordon V, Geraghty M, Joyce PB, Markianos K, Rudner AD, Holcik M, Fleming MD (2014) Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD). Blood 124:2867–2871

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1. Spontaneous, simultaneous bilateral osteonecrosis of the femoral heads in a patient with sideroblastic anaemia with B-cell immunodeficiency, periodic fever and developmental delay syndrome;BMJ Case Reports;2023-05

2. Case report: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay: Three cases and a literature review;Frontiers in Pediatrics;2023-03-02

3. Thalidomide as an Effective Treatment in Sideroblastic Anemia, Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD);Journal of Clinical Immunology;2023-02-02

4. A Rare Autoinflammatory Disorder in a Pediatric Patient with Favorable Response to Etanercept: Sideroblastic Anemia with B Cell Immunodeficiency, Periodic Fevers, and Developmental Delay Syndrome;Pediatric Allergy, Immunology, and Pulmonology;2022-09-01

5. Clinical and Therapeutic Aspects of Sideroblastic Anaemia with B-Cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) Syndrome: a Systematic Review;Journal of Clinical Immunology;2022-08-19

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