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

2021 ◽  
Author(s):  
Juanjuan Wang ◽  
Qian Deng ◽  
Xiaoliang He ◽  
Denghuan Chen ◽  
Shouwei Hang ◽  
...  
Keyword(s):  
B Cell ◽  
Developmental Delay ◽  
Compound Heterozygous ◽  
Chinese Han ◽  
Sideroblastic Anemia ◽  
Compound Heterozygous Variants

Biallelic TRNT1 variants in a child with B cell immunodeficiency, periodic fever and developmental delay without sideroblastic anemia (SIFD variant)

2020 ◽  
Vol 225 ◽  
pp. 64-65
Author(s):  
Donato Rigante ◽  
Emilia Stellacci ◽  
Chiara Leoni ◽  
Roberta Onesimo ◽  
Francesca Clementina Radio ◽  
...  
Keyword(s):  
B Cell ◽  
Developmental Delay ◽  
Periodic Fever ◽  
Sideroblastic Anemia

scholarly journals A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD)

Blood ◽  
2013 ◽  
Vol 122 (1) ◽  
pp. 112-123 ◽  
Author(s):  
Daniel H. Wiseman ◽  
Alison May ◽  
Stephen Jolles ◽  
Philip Connor ◽  
Colin Powell ◽  
...  
Keyword(s):  
Bone Marrow ◽  
B Cell ◽  
Developmental Delay ◽  
Bone Marrow Transplant ◽  
Marrow Transplant ◽  
Clinical Syndrome ◽  
Sideroblastic Anemia ◽  
Key Points ◽  
Congenital Sideroblastic Anemia

Key Points A novel clinical syndrome of CSA, B-cell immunodeficiency, periodic fevers, and developmental delay is described. Bone marrow transplant resulted in complete and durable resolution of the hematologic and immunologic manifestations.

scholarly journals Diseases Associated with Defects in tRNA CCA Addition

2020 ◽  
Vol 21 (11) ◽  
pp. 3780 ◽  
Author(s):  
Angelo Slade ◽  
Ribal Kattini ◽  
Chloe Campbell ◽  
Martin Holcik
Keyword(s):  
Retinitis Pigmentosa ◽  
B Cell ◽  
Developmental Delay ◽  
Cellular Systems ◽  
Loss Of Function ◽  
Partial Loss ◽  
Sideroblastic Anemia ◽  
Current State ◽  
Nucleotidyl Transferase ◽  
Essential Enzyme

tRNA nucleotidyl transferase 1 (TRNT1) is an essential enzyme catalyzing the addition of terminal cytosine-cytosine-adenosine (CCA) trinucleotides to all mature tRNAs, which is necessary for aminoacylation. It was recently discovered that partial loss-of-function mutations in TRNT1 are associated with various, seemingly unrelated human diseases including sideroblastic anemia with B-cell immunodeficiency, periodic fevers and developmental delay (SIFD), retinitis pigmentosa with erythrocyte microcytosis, and progressive B-cell immunodeficiency. In addition, even within the same disease, the severity and range of the symptoms vary greatly, suggesting a broad, pleiotropic impact of imparting TRNT1 function on diverse cellular systems. Here, we describe the current state of knowledge of the TRNT1 function and the phenotypes associated with mutations in TRNT1.

scholarly journals Congenital sideroblastic anemia associated with B cell immunodeficiency, periodic fevers, and developmental delay: A case report and review of mucocutaneous features

2019 ◽  
Vol 7 ◽  
pp. 2050313X1987671
Author(s):  
Abdulhadi Jfri ◽  
Therese El-Helou ◽  
Kevin A. Watters ◽  
Annie Bélisle ◽  
Ivan V. Litvinov ◽  
...  
Keyword(s):  
Case Report ◽  
B Cell ◽  
Developmental Delay ◽  
Lichen Sclerosus ◽  
Sideroblastic Anemia ◽  
Febrile Episodes ◽  
Congenital Sideroblastic Anemia

This is a 40-year-old woman with sideroblastic anemia with B cell immunodeficiency, periodic fevers, and developmental delay syndrome, who has genital and extragenital lichen sclerosus on the abdomen and the upper back that have become erythematous and painful during febrile episodes. This report summarizes the published cases of sideroblastic anemia with B cell immunodeficiency, periodic fevers, and developmental delay and highlights associated mucocutaneous features.

scholarly journals Detection of Rare Germline Variants in the Genomes of B Cell Neoplasms

2021 ◽  
Author(s):  
Adrian Mosquera Orgueira ◽  
Miguel Cid Lopez ◽  
Andres Peleteiro Raindo ◽  
Jose Angel Diaz Arias ◽  
Beatriz Antelo Rodriguez ◽  
...  
Keyword(s):  
B Cell ◽  
Rare Variants ◽  
B Cell Lymphoma ◽  
Lymphocytic Leukemia ◽  
Nucleic Acid Metabolism ◽  
Compound Heterozygous ◽  
Lymphoid Neoplasms ◽  
Study Results ◽  
Germline Variation ◽  
Compound Heterozygous Variants

Growing evidence has revealed the implication of germline variation in cancer predisposition and prognostication. Here, we describe an analysis of putatively disruptive rare variants across the genomes of 726 patients with B-cell lymphoid neoplasms. We discovered a significant enrichment of 26 genes in germline protein truncating variants (PTVs), affecting cell signaling (MET, JAK2, ANGPT2), energy metabolism (ACO1) and nucleic acid metabolism and repair pathways (NT5E, DCK). Interestingly, some of these variants were restricted to either chronic lymphocytic leukemia (CLL) (i.e., ANGPT2 and AKR1C3) or B-cell lymphoma cases (PNMT, TPT1 and IGHMBP2). Additionally, we detected 1,675 likely disrupting variants in genes associated with cancer, of which 44.75% were novel events and 7.88% were PTVs. Among these, the most frequently affected genes were ATM, BIRC6, CLTCL1A and TSC2. Homozygous or compound heterozygous variants were detected in 28 cases; and coexisting somatic events were observed in 17 patients, some of which affected key lymphoma drivers such as ATM, KMT2D and MYC. Finally, we observed that variants in the helicase gene WRN were independently associated with shorter survival in CLL. Our study results support an important role for rare germline variation in the pathogenesis, clinical presentation and disease outcome of B-cell lymphoid neoplasms.

scholarly journals Novel ARG1 variants identified in a patient with arginase 1 deficiency

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Katsuyuki Yokoi ◽  
Yoko Nakajima ◽  
Toshihiro Yasui ◽  
Makoto Yoshino ◽  
Tetsushi Yoshikawa ◽  
...  
Keyword(s):  
Sanger Sequencing ◽  
Arginase Activity ◽  
Compound Heterozygous ◽  
Measurement Sensitivity ◽  
Protein Core ◽  
Arginase 1 ◽  
Conserved Domain ◽  
New Variant ◽  
Compound Heterozygous Variants

AbstractWe report a case of a 13-year-old boy with arginase 1 deficiency carrying a new variant in ARG1. Sanger sequencing identified the compound heterozygous variants: NM_000045.4: c.365G>A (p.Trp122*)/c.820G>A (p.Asp274Asn). Although not previously reported, the p.Asp274Asn variant is predicted to have strong pathogenicity because it is located in a highly conserved domain in the protein core and arginase activity in the patient was below measurement sensitivity.

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