A Chinese DADA2 patient: report of two novel mutations and successful HSCT
Deficiency of adenosine deaminase 2 (DADA2) is an autoinflammatory disease caused by autosomal recessive mutations in Cat Eye Syndrome Chromosome Region 1 (CECR1) gene. In this report, we aimed to describe the clinical manifestations, immunological features, genotype, and treatments of one Chinese patient with novel CECR1 gene mutations. This patient initially presented with recurrent fever and rashes from the age of 3 months, but no pathogen was found. She then developed dry gangrene of the fingers at 5 months of age. Laboratory examinations revealed elevated levels of C-reactive protein and thrombocytes. The expression of interleukin-6 (IL-6) and IL-8 were both elevated. Sequencing results revealed that she had compound heterozygous mutations in CECR1 gene (c.1211T>C, p.Phe404Ser and c.1114 G>A, p.Val372Met). Subsequently, treatment with anti-IL-6 (tocilizumab) was started. However, she developed blurred vision in the right eye with occlusion of the central retinal artery, accompanied by unsteady gait. Magnetic resonance imaging (MRI) showed infarction of the right thalamus. Finally, she underwent hematopoietic stem cell transplantation (HSCT) and is currently in remission. Our findings suggest that HSCT could cure this disease.
KeywordsAdenosine deaminase 2 deficiency CECR1 gene Novel mutations Hematopoietic stem cell transplantation
Many thanks to the patient and her parents.
This study was funded by the National Natural Science Foundation of China (81471482), Science and Technology Commission of Shanghai Municipality (14411965400), and Shanghai Hospital Development Center (SHDC12016228).
Compliance with ethical standards
The study was approved by the Ethics Committee of the Children’s Hospital of Fudan University. The patient’s parents gave written informed consent.
Conflict of interest
The authors declare that they have no conflict of interest.
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