![]() ![]() Further study is warranted to investigate the underlying mechanisms. Furthermore, we reported cerebral aneurysm in a delayed-onset patient for the first time. We identified a synonymous mutation that affected pre-mRNA splicing in the ADA gene, which had never been reported in ADA deficiency. Early-onset infection, thymic abnormalities and failure to thrive were the most common manifestations in our patients. This study described the first case series of Chinese ADA-deficient patients. Five patients died with a median age of four months, while two patients received stem cell transplantation and are alive. In addition, we reported cerebral aneurysm and intracranial artery stenosis for the first time in ADA deficiency. Furthermore, the patient showed γδT cells expansion with an increased effect or phenotype, which may be associated with the delayed onset of disease. Notably, a novel synonymous mutation (c.606G>A, p.Q202=) was identified in a delayed-onset patient, which affected pre-mRNA splicing leading to a frameshift and premature truncation of the protein. The ADA genotype has a major effect on the clinical phenotype. Early-onset infection, thymic abnormalities and failure to thrive were the most common manifestations of Chinese ADA-deficient patients. ![]() ![]() Nine patients were identified with two novel mutations (W272X and Q202 =). We retrospectively reviewed the medical records of patients diagnosed with ADA deficiency in Beijing Children’s Hospital and summarized the previously published ADA deficiency cases from China in the literature. To date, few Chinese cases have been reported. Genetic defects of the ADA gene can cause a subtype of severe combined immunodeficiency. Adenosine deaminase (ADA) is a key enzyme in the purine salvage pathway. ![]()
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