AI Article Synopsis

  • DADA2 is an autoinflammatory disorder caused by a genetic mutation, leading to symptoms like recurrent vasculitis, neurological issues (like strokes), and various blood disorders.* -
  • The case report involves two unrelated children with DADA2: one suffered from neurological symptoms and a left-sided stroke while the other presented hematological issues such as fever and low blood cell counts.* -
  • While there’s no established treatment for DADA2, steroids and antitumor necrosis factor agents help manage symptoms, and in severe cases, hematopoietic stem cell transplantation may be beneficial.*

Article Abstract

Background: Adenosine deaminase deficiency 2 (DADA2) is an autoinflammatory disorder, caused by the gene mutation. The major clinical manifestations include recurrent vasculitis, neurological disorders such as stroke, hematologic abnormalities, and immunodeficiency. As reported in previous studies, DADA2 may be manifested by ischemic or hemorrhagic strokes. This disorder also includes various hematological manifestations (pure red cell aplasia, pancytopenia, hemolytic anemia, and pancytopenia with bone marrow involvement). . In this case report, we present the clinical and immunological findings of two unrelated patients with DADA2. The first patient was a 7-year-old female who experienced recurrent neurological symptoms such as vertigo, tinnitus, hearing loss, and right-sided hemiparesis. Her brain magnetic resonance imaging (MRI) revealed a left-sided stroke, and she responded well to antitumor necrosis factor alpha agents and plasmapheresis. The second patient was a 6-year-old female who had recurrent fever and bicytopenia, aphthous lesions, cervical lymphadenopathy, and elevated liver enzymes. We also discussed the strategies used to manage the clinical manifestations in these two DADA2 patients.

Conclusion: In this case report, we discussed two cases with DADA2 deficiency and their respective manifestations. The first case showed neurological symptoms while the second case had hematological symptoms. Although there is no established treatment for DADA2 due to its rarity, steroids are commonly used to treat this disorder. Antitumor necrosis factor is also effective in controlling the symptoms, especially the neurological ones. In cases where there is no appropriate response to these treatments, hematopoietic stem cell transplantation can be beneficial.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11333127PMC
http://dx.doi.org/10.1155/2024/4380689DOI Listing

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