Cargando…

IARS2-related disease manifesting as sideroblastic anemia and hypoparathyroidism: A case report

BACKGROUND: IARS2 (EC6.1.5) is a mitochondrial isoleucine-tRNA synthetase. Despite the fact that only fewer than 30 patients have been reported in the literature, mitochondrial disorders caused by pathogenic variants in the IARS2 gene (OMIM: 616007) have a very broad and variable clinical phenotype...

Descripción completa

Detalles Bibliográficos
Autores principales:	Gong, Yan, Lan, Xiao Ping, Guo, Sheng
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9871752/ https://www.ncbi.nlm.nih.gov/pubmed/36704128 http://dx.doi.org/10.3389/fped.2022.1080664

Ejemplares similares

Biallelic IARS2 mutations presenting as sideroblastic anemia
por: Barcia, Giulia, et al.
Publicado: (2021)

The First Case Report of X-Linked Sideroblastic Anemia With Ataxia of Chinese Origin and Literature Review
por: Xiong, Shiqiu, et al.
Publicado: (2021)

A Case Report on Pearson Syndrome With Emphasis on Genetic Screening in Patients Presenting With Sideroblastic Anemia and Lactic Acidosis
por: Shoeleh, Celeste, et al.
Publicado: (2023)

Case report: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay: Three cases and a literature review
por: Chen, Xiangyuan, et al.
Publicado: (2023)

Severe isoniazid related sideroblastic anemia
por: Piso, Rein Jan, et al.
Publicado: (2011)

A Case Report of Decompensated Cirrhosis of Liver with Sideroblastic Anemia
por: Mahtab, Mamun-Al, et al.
Publicado: (2015)

Molecular and Pathological Analyses of IARS1-Deficient Mice: An IARS Disorder Model
por: Watanabe, Masaki, et al.
Publicado: (2023)

Refractory anemia with ring sideroblasts and thrombocytosis
por: Pradhan, Sarita
Publicado: (2017)

Causes and Pathophysiology of Acquired Sideroblastic Anemia
por: Rodriguez-Sevilla, Juan Jose, et al.
Publicado: (2022)

Recurrent sideroblastic anemia during pregnancy
por: Mohamed, Shehab, et al.
Publicado: (2023)

PB2569: ALAS! PORPHYRIA OR SIDEROBLASTIC ANEMIA? A CASE REPORT
por: Catana, Alina, et al.
Publicado: (2023)

Expanding the clinical phenotype of IARS2-related mitochondrial disease
por: Vona, Barbara, et al.
Publicado: (2018)

Clinical and genetic characteristics of congenital sideroblastic anemia: comparison with myelodysplastic syndrome with ring sideroblast (MDS-RS)
por: Ohba, Rie, et al.
Publicado: (2012)

Genotype–phenotype correlation in IARS2‐related diseases: A case report and review of literature
por: Upadia, Jariya, et al.
Publicado: (2022)

The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2
por: Riley, Lisa G., et al.
Publicado: (2018)

Refractory anemia with ring sideroblasts in a young individual
por: Cho, Jin-Hee, et al.
Publicado: (2010)

Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia
por: Fernández-Murray, J. Pedro, et al.
Publicado: (2016)

Megaloblastic Anemia with Ring Sideroblasts is not Always Myelodysplastic Syndrome
por: Narang, Neha Chopra, et al.
Publicado: (2016)

Congenital sideroblastic anemias: From molecular causes to treatment
por: Ducamp, Sarah, et al.
Publicado: (2018)

Transient Sideroblastic Anemia Post-COVID-19 Infection
por: Mukhi, Nikhil, et al.
Publicado: (2022)

Deregulation of Genes Related to Iron and Mitochondrial Metabolism in Refractory Anemia with Ring Sideroblasts
por: del Rey, Mónica, et al.
Publicado: (2015)

A Novel ALAS2 Mutation Causes Congenital Sideroblastic Anemia
por: Ding, Yuxi, et al.
Publicado: (2023)

Isolated Zinc Deficiency Causing Severe Microcytosis and Sideroblastic Anemia
por: Shweta, Gupta, et al.
Publicado: (2014)

Imetelstat therapy in refractory anemia with ring sideroblasts with or without thrombocytosis
por: Tefferi, A, et al.
Publicado: (2016)

MLASA-1: A Rare Cause of Myopathy with Sideroblastic Anemia
por: Sait, Benazer, et al.
Publicado: (2022)

circ-IARS depletion inhibits the progression of non-small-cell lung cancer by circ-IARS/miR-1252-5p/HDGF ceRNA pathway
por: Yang, Jinhua, et al.
Publicado: (2023)

Mutation analysis of Chinese sporadic congenital sideroblastic anemia by targeted capture sequencing
por: An, Wenbin, et al.
Publicado: (2015)

The Role of the Iron Transporter ABCB7 in Refractory Anemia with Ring Sideroblasts
por: Boultwood, Jacqueline, et al.
Publicado: (2008)

Comment: In Response to “Megaloblastic Anemia with Ring Sideroblasts is not Always Myelodysplastic Syndrome”
por: Gajendra, Smeeta
Publicado: (2017)

Biallelic mutations in the SARS2 gene presenting as congenital sideroblastic anemia
por: Colin, Elia, et al.
Publicado: (2021)

Circular RNA IARS (circ-IARS) secreted by pancreatic cancer cells and located within exosomes regulates endothelial monolayer permeability to promote tumor metastasis
por: Li, Jie, et al.
Publicado: (2018)

Thalidomide as an Effective Treatment in Sideroblastic Anemia, Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD)
por: Li, Yan, et al.
Publicado: (2023)

Mood disorder as a manifestation of primary hypoparathyroidism: a case report
por: Rosa, Regis G, et al.
Publicado: (2014)

Hypoparathyroidism as the First Manifestation of Kearns-Sayre Syndrome: A Case Report
por: ASHRAFZADEH, Farah, et al.
Publicado: (2013)

The “Eyes” Have It. Ophthalmological Findings of Bilateral Cataract in a Boy with Hypoparathyroidism
por: Ruan, Juejue, et al.
Publicado: (2021)

Plasma proteome changes associated with refractory anemia and refractory anemia with ringed sideroblasts in patients with myelodysplastic syndrome
por: Májek, Pavel, et al.
Publicado: (2013)

Sideroblastic anemia: functional study of two novel missense mutations in ALAS2
por: Méndez, Manuel, et al.
Publicado: (2016)

Reduced‐toxicity allogeneic hematopoietic stem cell transplantation in congenital sideroblastic anemia
por: Kim, Min Hee, et al.
Publicado: (2018)

Understanding Sideroblastic Anemia: An Overview of Genetics, Epidemiology, Pathophysiology and Current Therapeutic Options
por: Abu-Zeinah, Ghaith, et al.
Publicado: (2020)

Congenital sideroblastic anemia model due to ALAS2 mutation is susceptible to ferroptosis
por: Ono, Koya, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_sf4ei4686vhpnl1clbuhd39knj