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Two Unrelated Iranian Patients with Adenosine Deaminase 2 Deficiency: A Case Report and Review of Treatment.

Parvaneh KarimzadeAziz EghbaliMohammad KeramatipourReza ShiariZahra GolchehreMahdieh TaghizadehMazdak FallahiShahrzad FallahNasrin Khakbazan FardNarges EslamiNarges BazgirMahnaz JameeZahra Chavoshzadeh
Published in: Case reports in immunology (2024)
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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