A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2
| العنوان: | A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2 |
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| المؤلفون: | Ezgi Deniz Batu, Deniz Cagdas Ayvaz, Hatice Asuman Özkara, Ekim Z. Taskiran, Omer Karadag, Ilhan Tezcan, Mualla Cetin, Sule Unal, Hafize Emine Sönmez, Yelda Bilginer, Naz Guleray, Seza Ozen, Abdulsamet Erden, Fatma Gumruk |
| المساهمون: | İç Hastalıkları |
| المصدر: | The Journal of Rheumatology. 47:117-125 |
| بيانات النشر: | The Journal of Rheumatology, 2019. |
| سنة النشر: | 2019 |
| مصطلحات موضوعية: | Male, 0301 basic medicine, Adenosine Deaminase 2 Deficiency, genetic structures, Adenosine Deaminase, medicine.disease_cause, Cohort Studies, 0302 clinical medicine, Agammaglobulinemia, Catalytic Domain, Immunology and Allergy, Diamond–Blackfan anemia, Child, Immunodeficiency, Anemia, Diamond-Blackfan, Mutation, Hematology, Homozygote, Hematopoietic Stem Cell Transplantation, Exons, Adenosıne deamınase 2 defıcıency, Middle Aged, Phenotype, Child, Preschool, Polyarteritis nodosa pure red cell anemia, Intercellular Signaling Peptides and Proteins, Female, Dimerization, Adult, medicine.medical_specialty, Adolescent, Diamond-blackfan anemia, Anemia, Immunology, Young Adult, 03 medical and health sciences, Rheumatology, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Tıp uygulaması, Genetic Association Studies, 030203 arthritis & rheumatology, Thrombocytosis, business.industry, Polyarteritis nodosa, medicine.disease, Polyarteritis Nodosa, 030104 developmental biology, Severe Combined Immunodeficiency, business |
| الوصف: | Objective.Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disorder associated with ADA2 mutations. We aimed to investigate the characteristics and ADA2 enzyme activities of patients with DADA2 compared to non-DADA2 patients.Methods.This is a descriptive study of 24 patients with DADA2 who were admitted to the Adult and Pediatric Rheumatology, Pediatric Haematology, and Pediatric Immunology Departments of Hacettepe University. All ADA2 exons were screened by Sanger sequencing. Serum ADA2 enzyme activity was measured by modified spectrophotometric method.Results.Twenty-four patients with DADA2 were included: 14 with polyarteritis nodosa (PAN)-like phenotype (Group 1); 9 with Diamond-Blackfan anemia (DBA)-like features, and 1 with immunodeficiency (Group 2). Fourteen PAN-like DADA2 patients did not have the typical thrombocytosis seen in classic PAN. Inflammatory attacks were evident only in Group 1 patients. Serum ADA2 activity was low in all patients with DADA2 except one, who was tested after hematopoietic stem cell transplantation. There was no significant difference in ADA2 activities between PAN-like and DBA-like patients. In DADA2 patients with one ADA2 mutation, serum ADA2 activities were as low as those of patients with homozygote DADA2. ADA2 activities were normal in non-DADA2 patients. ADA2 mutations were affecting the dimerization domain in Group 1 patients and the catalytic domain in Group 2 patients.Conclusion.We suggest assessing ADA2 activity along with genetic analysis because there are patients with one ADA2 mutation and absent enzyme activity. Our data suggest a possible genotype–phenotype correlation in which dimerization domain mutations are associated with PAN-like phenotype, and catalytic domain mutations are associated with hematological manifestations. |
| وصف الملف: | application/pdf |
| تدمد: | 1499-2752 0315-162X |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::049cafbcbee17a980a573e7e222d7acaTest https://doi.org/10.3899/jrheum.181384Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....049cafbcbee17a980a573e7e222d7aca |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14992752 0315162X |
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