Objective Deficiency of adenosine deaminase 2 (DADA2) is a potentially fatal monogenic syndrome characterized by variable manifestations of systemic vasculitis, bone marrow failure, and immunodeficiency. Most cases are diagnosed by pediatric care providers, given the typical early age of disease onset. This study was undertaken to describe the clinical phenotypes and treatment response both in adults and in children with DADA2 in India. Methods A retrospective analysis of pediatric and adult patients with DADA2 diagnosed at various rheumatology centers across India was conducted. Clinical characteristics, diagnostic findings, and treatment responses were analyzed in all subjects. Results In total, 33 cases of DADA2 were confirmed in this cohort between April 2017 and March 2020. Unlike previous studies, nearly one‐half of the confirmed cases presented during adulthood. All symptomatic patients exhibited features of vasculitis, whereas constitutional symptoms and anemia were more common in pediatric patients. Cutaneous and neurologic involvement were common, and 18 subjects had experienced at least one stroke. In addition, the clinical spectrum of DADA2 was expanded by recognition of novel features in these patients, including pancreatic infarction, focal myocarditis, and diffuse alveolar hemorrhage. Treatment with tumor necrosis factor inhibitors (TNFi) was initiated in 25 patients. All of the identified disease manifestations showed marked improvement after initiation of TNFi, and disease remission was achieved in 19 patients. Two cases were complicated by tuberculosis infection, and 2 deaths were reported. Conclusion This report presents the first case series of patients with DADA2 from India, diagnosed by adult and pediatric care providers. The findings raise awareness of this syndrome, particularly with regard to its presentation in adults.

Retinopathy in the context of systemic lupus erythematosus (SLE) is associated with severe disease and poorer prognosis. We studied retinopathy in our cohort of Indian lupus patients. Four hundred and thirty-seven patients fulfilling the Systemic Lupus International Collaborating Clinics-American College of Rheumatology-2012 criteria, attending the department of Clinical Immunology were enrolled under this cross-sectional study. A comprehensive clinical (including ophthalmological) examination and immunological profile were performed. Retinopathy was defined if cotton-wool spots, haemorrhages, vasculitis, retinal detachment or optic disc changes as papilledema, optic atrophy were present. Disease activity was assessed using SLE disease activity index (SLEDAI). Mean age of participants was 28.06 ± 9.7 years (93.1% females); median disease duration 12 months (Interquartile range-IQR 6.36). Forty-five (10.3%) had SLE associated retinopathy. Autoimmune haemolytic anaemia [31.1 vs 14.5%, p value 0.004, odd's ratio-OR (95% confidence interval-CI) 2.65 (1.33-5.29)], serositis [33.3 vs 18.9%, p value 0.023, OR (CI) 2.14 (1.11-4.10)], lupus nephritis [62.2 vs 40.8%, p value 0.006, OR (CI) 2.38 (1.26-4.50)], seizures [28.9 vs 12.8%, p value 0.004, OR (CI) 2.77 (1.36-5.65)] and median SLEDAI score (24 vs 12, p < 0.01) were significantly higher in those with retinopathy. On adjusted binary logistic regression, autoimmune hemolytic anemia, lupus nephritis and presence of antibodies to Smith antigen were predictors for retinopathy. Retinopathy is common in SLE, a marker of active disease with frequent renal involvement and should be screened for in all patients with lupus.

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Introduction The prevalence of various immunological biomarkers in neuropsychiatric systemic lupus erythematosus (NPSLE) differs among various patients with varied neuropsychiatric manifestations and different populations. We studied the prevalence of these biomarkers; especially the neuron specific autoantibodies in patients with systemic lupus erythematosus (SLE) and compared them among patients with and without neuropsychiatric involvement. Methodology This is a comparative cross-sectional study conducted in a tertiary care hospital in South India. The prevalence of immunological biomarkers including complement levels, systemic and brain specific autoantibodies (anti-myelin antibody, anti–myelin oligodendrocyte glycoprotein and anti–myelin-associated glycoprotein antibody) were assessed and compared among those with and without NPSLE and with different NPSLE manifestations. Results A total of 522 SLE patients were enrolled in the study. The mean age of the study participants was 28.5 ± 8.8 years and 93.5% were women. Neuropsychiatric manifestations were seen in 167 (32%) patients. Seizure was the most common neuropsychiatric manifestation seen in 41.3%, followed by psychosis (18.6%), mood disorder (16.8%), stroke (10.8%), mononeuropathy (10.2%), headache (9.6%), acute confusional state (6.6%) and aseptic meningitis (5.4%). Patients with NPSLE had a higher SLE disease activity index score. Most of the autoantibodies, that is anticardiolipin antibody (aCL), anti–β2 glycoprotein 1 antibody (β2GP1), lupus anticoagulant (LA), anti-nucleosome, anti–ribosomal P, anti-Ro52, anti-Ro60 and anti-La, were seen in higher proportion in the NPSLE group, although the difference failed to reach statistical significance. On subgroup analysis, psychosis was significantly higher in patients with anti-ribosomal P positivity than without (11.8% versus 4.1%, p.0.007; odds ratio (OR) 3.1, confidence interval (CI) 1.4–6.8), while stroke had a higher proportion among those with positive b2GP1 IgG (6.3% versus 1.8%, p.0.03; OR 3.6, CI 1.2–11.0). A higher proportion of demyelination was seen among the LA positive than the negative (10.3% versus 0.2%, p.0.03; OR 5.39, CI 1.15–24.17) and anti–myelin oligodendrocyte glycoprotein in mood disorder (14.3% versus 3.4%, p = 0.03; OR 4.66, CI 1.13–19.13). Conclusion No single biomarker correlated with NPSLE. Among different NPSLE manifestations, the prevalence of IgG β2GP1 in stroke, LA in demyelination, anti–ribosomal P in psychosis and anti–myelin oligodendrocyte glycoprotein in mood disorder were higher. Further studies on the pathogenic mechanisms underlying NPSLE and its different manifestations may help us to identify better biomarkers.

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