These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
135 related articles for article (PubMed ID: 33843817)
1. A Novel Homozygous TRNT1 Mutation in a Child With an Early Diagnosis of Common Variable Immunodeficiency Leading to Mild Hypogammaglobulinemia and Hemolytic Anemia. Topyildiz E; Edeer Karaca N; Bas I; Aykut A; Durmaz A; Guven Bilgin RB; Aksu G; Yilmaz Karapinar D; Kutukculer N J Pediatr Hematol Oncol; 2021 Aug; 43(6):e780-e784. PubMed ID: 33843817 [TBL] [Abstract][Full Text] [Related]
2. 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. Kisla Ekinci RM; Zararsiz A; Demir GU; Anlas O Pediatr Allergy Immunol Pulmonol; 2022 Sep; 35(3):129-132. PubMed ID: 36121781 [No Abstract] [Full Text] [Related]
3. Thalidomide as an Effective Treatment in Sideroblastic Anemia, Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD). Li Y; Deng M; Han T; Mo W; Mao H J Clin Immunol; 2023 May; 43(4):780-793. PubMed ID: 36729249 [TBL] [Abstract][Full Text] [Related]
4. Novel biallelic TRNT1 mutations resulting in sideroblastic anemia, combined B and T cell defects, hypogammaglobulinemia, recurrent infections, hypertrophic cardiomyopathy and developmental delay. Lougaris V; Chou J; Baronio M; Gazzurelli L; Lorenzini T; Soresina A; Moratto D; Badolato R; Seleman M; Bellettato M; Geha RS; Plebani A Clin Immunol; 2018 Mar; 188():20-22. PubMed ID: 29170023 [No Abstract] [Full Text] [Related]
5. Expanding the Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction. Hull S; Malik AN; Arno G; Mackay DS; Plagnol V; Michaelides M; Mansour S; Albanese A; Brown KT; Holder GE; Webster AR; Heath PT; Moore AT JAMA Ophthalmol; 2016 Sep; 134(9):1049-53. PubMed ID: 27389523 [TBL] [Abstract][Full Text] [Related]
9. Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency. Kumaki E; Tanaka K; Imai K; Aoki-Nogami Y; Ishiguro A; Okada S; Kanegane H; Ishikawa F; Morio T Int J Hematol; 2019 Apr; 109(4):382-389. PubMed ID: 30758723 [TBL] [Abstract][Full Text] [Related]
10. Two cases of sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) syndrome in Chinese Han children caused by novel compound heterozygous variants of the TRNT1 gene. Wang J; Deng Q; He X; Chen D; Hang S; Gao Y; Chen Y Clin Chim Acta; 2021 Oct; 521():244-250. PubMed ID: 34310935 [TBL] [Abstract][Full Text] [Related]
11. Case report: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay: Three cases and a literature review. Chen X; Fu F; Mo X; Cheng S; Zeng H Front Pediatr; 2023; 11():1001222. PubMed ID: 36937953 [TBL] [Abstract][Full Text] [Related]
12. Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis. DeLuca AP; Whitmore SS; Barnes J; Sharma TP; Westfall TA; Scott CA; Weed MC; Wiley JS; Wiley LA; Johnston RM; Schnieders MJ; Lentz SR; Tucker BA; Mullins RF; Scheetz TE; Stone EM; Slusarski DC Hum Mol Genet; 2016 Jan; 25(1):44-56. PubMed ID: 26494905 [TBL] [Abstract][Full Text] [Related]
13. Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders. Buchbinder D; Baker R; Lee YN; Ravell J; Zhang Y; McElwee J; Nugent D; Coonrod EM; Durtschi JD; Augustine NH; Voelkerding KV; Csomos K; Rosen L; Browne S; Walter JE; Notarangelo LD; Hill HR; Kumánovics A J Clin Immunol; 2015 Feb; 35(2):119-24. PubMed ID: 25516070 [TBL] [Abstract][Full Text] [Related]
14. Biallelic TRNT1 variants in a child with B cell immunodeficiency, periodic fever and developmental delay without sideroblastic anemia (SIFD variant). Rigante D; Stellacci E; Leoni C; Onesimo R; Radio FC; Pizzi S; Giorgio V; Tornesello A; Tartaglia M; Zampino G Immunol Lett; 2020 Sep; 225():64-65. PubMed ID: 32592741 [No Abstract] [Full Text] [Related]
15. A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay. Odom J; Amin H; Gijavanekar C; Elsea SH; Kralik S; Chinen J; Lin Y; Yates AMM; Mizerik E; Potocki L; Scaglia F Am J Med Genet A; 2022 Jan; 188(1):259-268. PubMed ID: 34510712 [TBL] [Abstract][Full Text] [Related]
16. Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors. 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 Ann Rheum Dis; 2018 Apr; 77(4):612-619. PubMed ID: 29358286 [TBL] [Abstract][Full Text] [Related]
18. [Interstitial lung diseases and granulomatoses associated common variable immunodeficiency]. Doubková M; Moulis M; Skřičková J Vnitr Lek; 2015 Feb; 61(2):119-24. PubMed ID: 25813254 [TBL] [Abstract][Full Text] [Related]
19. [Granulomatosis and primary immunodeficiency in adulthood]. Pavic M; Pasquet F; Fieschi C; Malphettes M; Sève P Rev Med Interne; 2013 Mar; 34(3):154-8. PubMed ID: 22425132 [TBL] [Abstract][Full Text] [Related]
20. Case report: Muscle involvement in a Chinese patient with Wei CJ; Liu YD; Yang YL; Wu Y; Liu JY; Chang XZ; Hua Y; Liu YH; Xiong H Front Pediatr; 2023; 11():1160107. PubMed ID: 37215601 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]