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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., (© 2023. The Author(s).)

Objectives: The present study aimed to determine the prevalence of low bone mineral density (BMD) and low bone mineral content (BMC) as chronic complications of juvenile systemic lupus erythematosus (JSLE) and identify the associated variables and patient characteristics to investigate the relationship between BMD and influential factors., Methods: This cross-sectional study enrolled 54 patients with JSLE, including 38 females and 16 males. The BMD and BMC were assessed by dual-energy X-ray absorptiometry in the hip (femoral neck) and the lumbar spine. Low BMD was considered a Z-score < -2. The study investigated the association of BMC and Z-score with the current daily dose of corticosteroids, the daily dose of corticosteroids at disease onset, the duration of disease, the duration of steroid treatment, the time from the onset of symptoms to diagnosis, and renal involvement., Results: The prevalence of low BMD in the lumbar spine and the femoral neck was 14.8% and 18.5%, respectively; the reduction of BMD was more significant in the femoral neck compared to the lumbar spine. Osteoporosis was detected in one patient. The multiple linear regression analysis found a significant association between a higher daily corticosteroid dose and lower BMC of the femoral neck and the lumbar spine. In addition, patients receiving higher doses of corticosteroids at disease onset showed better follow-up bone mineral densitometry results., Conclusion: Based on the findings of this study, JSLE more affects the femoral neck than the lumbar spine. Patients receiving a more robust treatment with higher doses of corticosteroids at disease onset (to control the inflammatory processes) showed better spinal BMC results. A higher dose of daily corticosteroid treatment during assessment was identified as a risk factor for low BMD., Competing Interests: None