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A case series of ten plus one deficiency of adenosine deaminase 2 (DADA2) patients in Iran
BACKGROUND: Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disease caused by mutations in the ADA2 gene. DADA2 has a broad spectrum of clinical presentations. Apart from systemic manifestations, we can categorize most of the signs and symptoms of DADA2 into th...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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BioMed Central
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10265890/ https://www.ncbi.nlm.nih.gov/pubmed/37312195 http://dx.doi.org/10.1186/s12969-023-00838-3 |
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author | Asna Ashari, Kosar Aslani, Nahid Parvaneh, Nima Assari, Raheleh Heidari, Morteza Fathi, Mohammadreza Tahghighi Sharabian, Fatemeh Ronagh, Alireza Shahrooei, Mohammad Moafi, Alireza Rezaei, Nima Ziaee, Vahid |
author_facet | Asna Ashari, Kosar Aslani, Nahid Parvaneh, Nima Assari, Raheleh Heidari, Morteza Fathi, Mohammadreza Tahghighi Sharabian, Fatemeh Ronagh, Alireza Shahrooei, Mohammad Moafi, Alireza Rezaei, Nima Ziaee, Vahid |
author_sort | Asna Ashari, Kosar |
collection | PubMed |
description | BACKGROUND: Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disease caused by mutations in the ADA2 gene. DADA2 has a broad spectrum of clinical presentations. Apart from systemic manifestations, we can categorize most of the signs and symptoms of DADA2 into the three groups of vasculitis, hematologic abnormalities, and immunologic dysregulations. The most dominant vasculitis features are skin manifestations, mostly in the form of livedo racemosa/reticularis, and early onset ischemic or hemorrhagic strokes. Hypogammaglobulinemia that is found in many cases of DADA2 brings immunodeficiencies into the differential diagnosis. Cytopenia, pure red cell aplasia (PRCA), and bone marrow failure (BMF) are the hematologic abnormalities commonly found in DADA. CASE PRESENTATION: We introduce eleven patients with DADA2 diagnosis, including two brothers and sisters, one set of twin sisters, and one father and his daughter and son. Ten patients (91%) had consanguineous parents. All the patients manifested livedo racemose/reticularis. Ten patients (91%) reported febrile episodes, and seven (64%) had experienced strokes. Only one patient had hypertension. Two of the patients (11%) presented decreased immunoglobulin levels. One of the patients presented with PRCA. Except for the PRCA patient with G321E mutation, all of our patients delivered G47R mutation, the most common mutation in DADA2 patients. Except for one patient who unfortunately passed away before the diagnosis was made and proper treatment was initiated, the other patients’ symptoms are currently controlled; two of the patients presented with mild symptoms and are now being treated with colchicine, and the eight others responded well to anti-TNFs. The PRCA patient still suffers from hematologic abnormalities and is a candidate for a bone marrow transplant. CONCLUSIONS: Considering the manifestations and the differential diagnoses, DADA2 is not merely a rheumatologic disease, and introducing this disease to hematologists, neurologists, and immunologists is mandatory to initiate prompt and proper treatment. The efficacy of anti-TNFs in resolving the symptoms of DADA2 patients have been proven, but not for those with hematologic manifestations. Similarly, they were effective in controlling the symptoms of our cohort of patients, except for the one patient with cytopenia. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12969-023-00838-3. |
format | Online Article Text |
id | pubmed-10265890 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-102658902023-06-15 A case series of ten plus one deficiency of adenosine deaminase 2 (DADA2) patients in Iran Asna Ashari, Kosar Aslani, Nahid Parvaneh, Nima Assari, Raheleh Heidari, Morteza Fathi, Mohammadreza Tahghighi Sharabian, Fatemeh Ronagh, Alireza Shahrooei, Mohammad Moafi, Alireza Rezaei, Nima Ziaee, Vahid Pediatr Rheumatol Online J Case Report BACKGROUND: Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disease caused by mutations in the ADA2 gene. DADA2 has a broad spectrum of clinical presentations. Apart from systemic manifestations, we can categorize most of the signs and symptoms of DADA2 into the three groups of vasculitis, hematologic abnormalities, and immunologic dysregulations. The most dominant vasculitis features are skin manifestations, mostly in the form of livedo racemosa/reticularis, and early onset ischemic or hemorrhagic strokes. Hypogammaglobulinemia that is found in many cases of DADA2 brings immunodeficiencies into the differential diagnosis. Cytopenia, pure red cell aplasia (PRCA), and bone marrow failure (BMF) are the hematologic abnormalities commonly found in DADA. CASE PRESENTATION: We introduce eleven patients with DADA2 diagnosis, including two brothers and sisters, one set of twin sisters, and one father and his daughter and son. Ten patients (91%) had consanguineous parents. All the patients manifested livedo racemose/reticularis. Ten patients (91%) reported febrile episodes, and seven (64%) had experienced strokes. Only one patient had hypertension. Two of the patients (11%) presented decreased immunoglobulin levels. One of the patients presented with PRCA. Except for the PRCA patient with G321E mutation, all of our patients delivered G47R mutation, the most common mutation in DADA2 patients. Except for one patient who unfortunately passed away before the diagnosis was made and proper treatment was initiated, the other patients’ symptoms are currently controlled; two of the patients presented with mild symptoms and are now being treated with colchicine, and the eight others responded well to anti-TNFs. The PRCA patient still suffers from hematologic abnormalities and is a candidate for a bone marrow transplant. CONCLUSIONS: Considering the manifestations and the differential diagnoses, DADA2 is not merely a rheumatologic disease, and introducing this disease to hematologists, neurologists, and immunologists is mandatory to initiate prompt and proper treatment. The efficacy of anti-TNFs in resolving the symptoms of DADA2 patients have been proven, but not for those with hematologic manifestations. Similarly, they were effective in controlling the symptoms of our cohort of patients, except for the one patient with cytopenia. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12969-023-00838-3. BioMed Central 2023-06-13 /pmc/articles/PMC10265890/ /pubmed/37312195 http://dx.doi.org/10.1186/s12969-023-00838-3 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Case Report Asna Ashari, Kosar Aslani, Nahid Parvaneh, Nima Assari, Raheleh Heidari, Morteza Fathi, Mohammadreza Tahghighi Sharabian, Fatemeh Ronagh, Alireza Shahrooei, Mohammad Moafi, Alireza Rezaei, Nima Ziaee, Vahid A case series of ten plus one deficiency of adenosine deaminase 2 (DADA2) patients in Iran |
title | A case series of ten plus one deficiency of adenosine deaminase 2 (DADA2) patients in Iran |
title_full | A case series of ten plus one deficiency of adenosine deaminase 2 (DADA2) patients in Iran |
title_fullStr | A case series of ten plus one deficiency of adenosine deaminase 2 (DADA2) patients in Iran |
title_full_unstemmed | A case series of ten plus one deficiency of adenosine deaminase 2 (DADA2) patients in Iran |
title_short | A case series of ten plus one deficiency of adenosine deaminase 2 (DADA2) patients in Iran |
title_sort | case series of ten plus one deficiency of adenosine deaminase 2 (dada2) patients in iran |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10265890/ https://www.ncbi.nlm.nih.gov/pubmed/37312195 http://dx.doi.org/10.1186/s12969-023-00838-3 |
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