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Intracellular concentration of ADA2 is a marker for monocyte differentiation and activation.
Front Med
January 2025
International Center for Aging and Cancer (ICAC), Hainan Medical University, Haikou, 571199, China.
Adenosine, a critical molecule regulating cellular function both inside and outside cells, is controlled by two human adenosine deaminases: ADA1 and ADA2. While ADA1 primarily resides in the cytoplasm, ADA2 can be transported to lysosomes within cells or secreted outside the cell. Patients with ADA2 deficiency (DADA2) often suffer from systemic vasculitis due to elevated levels of TNF-α in their blood.
View Article and Find Full Text PDFCarrier frequency and incidence estimation of deficiency of adenosine deaminase 2 in the Chinese population based on massive exome sequencing data.
Clin Immunol
December 2024
The Central Laboratory of Birth Defects Prevention and Control, The Affiliated Women and Children's Hospital of Ningbo University, Ningbo, China; Ningbo Key Laboratory for the Prevention and Treatment of Embryogenic Diseases, The Affiliated Women and Children's Hospital of Ningbo University, Ningbo, China; Ningbo Key Laboratory of Genomic Medicine and Birth Defects Prevention, The Affiliated Women and Children's Hospital of Ningbo University, Ningbo, China. Electronic address:
Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disease characterised by early onset stroke, recurrent fever, and diverse vascular pathologies, caused by loss-of-function homozygous or compound heterozygous variants of ADA2. This research aimed to determine the carrier frequency and expected incidence of DADA2 in China, using massive exome sequencing (ES) data. A total of 50 likely pathogenic/pathogenic variants (LP/PVs) were identified among 69,413 Chinese individuals, including 20 novel and rare variants (<0.
View Article and Find Full Text PDFGenetic Testing in Patients with Autoimmune Lymphoproliferative Syndrome: Experience of 802 Patients at Cincinnati Children's Hospital Medical Center.
J Clin Immunol
July 2024
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Article Synopsis
- Autoimmune lymphoproliferative syndrome (ALPS) is a rare genetic disorder characterized by symptoms like swollen lymph nodes, spleen enlargement, low blood cell counts, and a higher risk of lymphoma, making diagnosis difficult, especially when mixed with similar immune deficiencies.
- A study at Cincinnati Children's Hospital evaluated a 15-gene next-generation sequencing (NGS) panel on 802 patients, revealing that 62 (7.7%) had a confirmed ALPS diagnosis, predominantly due to mutations in the FAS gene, and the diagnostic yield increased to 30% with certain immunological findings.
- The research identified novel genetic variants, showed the importance of family studies for managing at-risk relatives, and demonstrated that the ALPS
A pilot study of childhood-onset Takayasu arteritis using whole exome sequencing suggests oligogenic inheritance involving classical complement, collagen, and autoinflammatory pathways.
Clin Rheumatol
August 2024
Department of Clinical Immunology and Rheumatology, Christian Medical College, Vellore, Tamil Nadu, India.
Takayasu arteritis (TA) is a chronic granulomatous inflammatory disease affecting the aorta and its branches. Paediatric TA (pTA) may present from 6 months after birth till the adolescent age group. Genetics and pathogenesis of pTA are not fully understood.
View Article and Find Full Text PDFA case report on deficiency of adenosine deaminase 2 with relapse-remission course and analysis of genotype-phenotype correlation.
Am J Med Genet A
June 2024
Department of Orthopedics, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
Deficiency of adenosine deaminase 2 (DADA2) is a monogenic disease caused by biallelic mutations in adenosine deaminase 2 (ADA2). The varying phenotypes of the disease often lead to delayed diagnosis or misdiagnosis. We report an 11-year-old boy with DADA2 and provide a preliminary analysis of genotype-phenotype correlation.
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