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Case report: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay: Three cases and a literature review.
Front Pediatr
March 2023
Department of Allergy, Immunology and Rheumatology, Guangzhou Women and Children's Medical Center, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou Medical University, Guangzhou, China.
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) is a serious autosomal recessive syndrome caused by biallelic mutations in cytosine-cytosine-adenosine tRNA nucleotidyltransferase 1 (). The main clinical features of SIFD are periodic fevers, developmental delay, sideroblastic or microcytic anemia, and immunodeficiency. Herein, we report three cases of SIFD with compound heterozygous variants of .
View Article and Find Full Text PDFThalidomide as an Effective Treatment in Sideroblastic Anemia, Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD).
J Clin Immunol
May 2023
Department of Immunology, Ministry of Education Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, No. 56 Nanlishi Road, Beijing, 100045, China.
Article Synopsis
- Sideroblastic anemia, immunodeficiency, periodic fevers, and developmental delay (SIFD) is a rare genetic disorder linked to mutations in the TRNT1 gene, leading to multiple health issues, and current treatment options are limited.* -
- The study reviewed the cases of two patients; one had a novel mutation and unfortunately passed away despite treatment, while the second patient showed improvement with thalidomide after initial failure with adalimumab.* -
- A wider analysis of 69 reported SIFD cases highlighted common symptoms such as anemia and developmental delay, while suggesting that some treatments, like etanercept, may be more effective than others.*
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.
Pediatr Allergy Immunol Pulmonol
September 2022
Department of Department of Medical Genetics, Adana City Training and Research Hospital, Adana, Turkey.
Sideroblastic anemia with B cell immunodeficiency, periodic fevers, and developmental delay (SIFD) syndrome is caused by biallelic TRNT1 mutations. TRNT1 gene encodes a CCA-adding tRNA nucleotidyl transferase enzyme. Mutant TRNT1 results in immunodeficiency and anemia in various degrees, accompanied by several organ involvement.
View Article and Find Full Text PDFA phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay.
Am J Med Genet A
January 2022
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD; MIM #616084) is an autosomal recessive disorder of mitochondrial and cytosolic tRNA processing caused by pathogenic, biallelic variants in TRNT1. Other features of this disorder include central nervous system, renal, cardiac, ophthalmological features, and sensorineural hearing impairment. SIFD was first described in 2013 and to date, it has been reported in 46 patients.
View Article and Find Full Text PDFCorrigendum to "Novel biallelic mutations lead to atypical SIFD and multiple immune defects" [Genes Dis 7 (1) (2020) 128-137].
Genes Dis
September 2020
Pediatric Research Institute, Children's Hospital of Chongqing Medical University, Chongqing, PR China.
[This corrects the article DOI: 10.1016/j.gendis.
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