Two Unrelated Iranian Patients with Adenosine Deaminase 2 Deficiency: A Case Report and Review of Treatment
Background. Adenosine deaminase deficiency 2 (DADA2) is an autoinflammatory disorder, caused by the CECR1 gene mutation. The major clinical manifestations include recurrent vasculitis, neurological disorders such as stroke, hematologic abnormalities, and immunodeficiency. As reported in previous stu...
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| Format: | Article |
| Language: | English |
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Wiley
2024-01-01
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| Series: | Case Reports in Immunology |
| Online Access: | http://dx.doi.org/10.1155/2024/4380689 |
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| author | Parvaneh Karimzade Aziz Eghbali Mohammad Keramatipour Reza Shiari Zahra Golchehre Mahdieh Taghizadeh Mazdak Fallahi Shahrzad Fallah Nasrin Khakbazan Fard Narges Eslami Narges Bazgir Mahnaz Jamee Zahra Chavoshzadeh |
| author_facet | Parvaneh Karimzade Aziz Eghbali Mohammad Keramatipour Reza Shiari Zahra Golchehre Mahdieh Taghizadeh Mazdak Fallahi Shahrzad Fallah Nasrin Khakbazan Fard Narges Eslami Narges Bazgir Mahnaz Jamee Zahra Chavoshzadeh |
| author_sort | Parvaneh Karimzade |
| collection | DOAJ |
| description | Background. Adenosine deaminase deficiency 2 (DADA2) is an autoinflammatory disorder, caused by the CECR1 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). Case Presentation. 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. |
| format | Article |
| id | doaj-art-035792386d7f44d18552a52a6228f47c |
| institution | Kabale University |
| issn | 2090-6617 |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Immunology |
| spelling | doaj-art-035792386d7f44d18552a52a6228f47c2025-02-03T09:57:50ZengWileyCase Reports in Immunology2090-66172024-01-01202410.1155/2024/4380689Two Unrelated Iranian Patients with Adenosine Deaminase 2 Deficiency: A Case Report and Review of TreatmentParvaneh Karimzade0Aziz Eghbali1Mohammad Keramatipour2Reza Shiari3Zahra Golchehre4Mahdieh Taghizadeh5Mazdak Fallahi6Shahrzad Fallah7Nasrin Khakbazan Fard8Narges Eslami9Narges Bazgir10Mahnaz Jamee11Zahra Chavoshzadeh12Pediatric Neurology Research CenterDepartment of PediatricsDepartment of Medical GeneticsDivision of Pediatric RheumatologyDepartment of Medical GeneticsWatson Genetic LaboratoryImmunology and Allergy DepartmentImmunology and Allergy DepartmentImmunology and Allergy DepartmentImmunology and Allergy DepartmentHearing Disorders Research CenterImmunology and Allergy DepartmentImmunology and Allergy DepartmentBackground. Adenosine deaminase deficiency 2 (DADA2) is an autoinflammatory disorder, caused by the CECR1 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). Case Presentation. 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.http://dx.doi.org/10.1155/2024/4380689 |
| spellingShingle | Parvaneh Karimzade Aziz Eghbali Mohammad Keramatipour Reza Shiari Zahra Golchehre Mahdieh Taghizadeh Mazdak Fallahi Shahrzad Fallah Nasrin Khakbazan Fard Narges Eslami Narges Bazgir Mahnaz Jamee Zahra Chavoshzadeh Two Unrelated Iranian Patients with Adenosine Deaminase 2 Deficiency: A Case Report and Review of Treatment Case Reports in Immunology |
| title | Two Unrelated Iranian Patients with Adenosine Deaminase 2 Deficiency: A Case Report and Review of Treatment |
| title_full | Two Unrelated Iranian Patients with Adenosine Deaminase 2 Deficiency: A Case Report and Review of Treatment |
| title_fullStr | Two Unrelated Iranian Patients with Adenosine Deaminase 2 Deficiency: A Case Report and Review of Treatment |
| title_full_unstemmed | Two Unrelated Iranian Patients with Adenosine Deaminase 2 Deficiency: A Case Report and Review of Treatment |
| title_short | Two Unrelated Iranian Patients with Adenosine Deaminase 2 Deficiency: A Case Report and Review of Treatment |
| title_sort | two unrelated iranian patients with adenosine deaminase 2 deficiency a case report and review of treatment |
| url | http://dx.doi.org/10.1155/2024/4380689 |
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