Multiple Autoimmune Disorders in Aicardi-Goutières Syndrome

Samanta, Debopam; Ramakrishnaiah, Raghu H.; Crary, Shelley E.; Sukumaran, Sukesh; Burrow, T.

doi:10.1016/j.pediatrneurol.2019.01.017

Cited by 9 publications

(11 citation statements)

References 9 publications

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“…In AGS, hepatosplenomegaly and/or transaminitis can be an initial presentation in the neonatal period when it resembles congenital viral infection 31 33 72 79. Patients can develop autoimmune hepatitis, the presence of liver-specific antibodies has been described 34 62 80…”

Section: Resultsmentioning

confidence: 99%

“…Cytopenias can occur in all three diseases due to temporary bone marrow suppression or homing changes and may correlate with disease activity 1 12. Cytopenias including autoimmune cytopenias occur more frequently in patients with CANDLE/PRAAS and AGS but are also seen in patients with SAVI 1 8 18 33 50 52 54 60 79 83 89. Thrombocytopenia in patients with AGS can be present during the neonatal period mimicking congenital infection, but also later during the course of the disease associated with other haematological abnormalities such as anaemia and leucopenia 19 79.…”

Section: Resultsmentioning

confidence: 99%

“…Cytopenias including autoimmune cytopenias occur more frequently in patients with CANDLE/PRAAS and AGS but are also seen in patients with SAVI 1 8 18 33 50 52 54 60 79 83 89. Thrombocytopenia in patients with AGS can be present during the neonatal period mimicking congenital infection, but also later during the course of the disease associated with other haematological abnormalities such as anaemia and leucopenia 19 79. Complete blood count with differential should be evaluated at presentation and may be monitored as a marker for disease activity in patients with type I interferonopathies.…”

Section: Resultsmentioning

confidence: 99%

“…Antineutrophil cytoplasmic antibodies (ANCA) are, intermittently, elevated in up to 71% of patients with SAVI and 18% of patients with AGS8 62; and RF positivity is reported in patients with SAVI (see above). Urinalysis for kidney dysfunction and screening for autoimmunity based on the disease symptoms are recommended as kidney disease is reported mostly in patients with AGS50 62 79 and SAVI 8 106 107. Antibodies associated with specific autoimmune diseases including autoimmune arthritis, pauci-immune glomerulonephritis, autoimmune cytopenias, thyroiditis and/or hepatitis have been described in CANDLE/PRAAS, SAVI or AGS with variable frequencies (online supplemental table 5).…”

Section: Resultsmentioning

confidence: 99%

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The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS

et al. 2022

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ObjectiveAutoinflammatory type I interferonopathies, chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature/proteasome-associated autoinflammatory syndrome (CANDLE/PRAAS), stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI) and Aicardi-Goutières syndrome (AGS) are rare and clinically complex immunodysregulatory diseases. With emerging knowledge of genetic causes and targeted treatments, a Task Force was charged with the development of ‘points to consider’ to improve diagnosis, treatment and long-term monitoring of patients with these rare diseases.MethodsMembers of a Task Force consisting of rheumatologists, neurologists, an immunologist, geneticists, patient advocates and an allied healthcare professional formulated research questions for a systematic literature review. Then, based on literature, Delphi questionnaires and consensus methodology, ‘points to consider’ to guide patient management were developed.ResultsThe Task Force devised consensus and evidence-based guidance of 4 overarching principles and 17 points to consider regarding the diagnosis, treatment and long-term monitoring of patients with the autoinflammatory interferonopathies, CANDLE/PRAAS, SAVI and AGS.ConclusionThese points to consider represent state-of-the-art knowledge to guide diagnostic evaluation, treatment and management of patients with CANDLE/PRAAS, SAVI and AGS and aim to standardise and improve care, quality of life and disease outcomes.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

See 2 more Smart Citations

The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS

et al. 2022

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“…Hence it can be assumed that SAMDH1 might be a commonality and a causative factor among these viral infections. Along with them, SAMDH1 has been associated with several other disorders that show signs and symptoms of neurological involvement ( 65 – 68 ). These include Aicardi-Goutieres syndrome (AGS), which is an autoimmune condition.…”

Section: Potential Host Responses To Covid-19mentioning

confidence: 99%

SAMHD1 as the Potential Link Between SARS-CoV-2 Infection and Neurological Complications

Khan

Sergi

2020

Front. Neurol.

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The recent pandemic of coronavirus infectious illness 2019 (COVID19) triggered by SARS-CoV-2 has rapidly spread around the globe, generating in severe events an acute, highly lethal pneumonia and death. In the past two hitherto similar CoVs, the severe acute respiratory syndrome CoV (SARS-CoV-1) and Middle East respiratory syndrome CoV (MERS-CoV) also gained universal attention as they produced clinical symptoms similar to those of SARS-CoV-2 utilizing angiotensin-converting enzyme 2 (ACE2) receptor and dipeptidyl peptidase 4 (DPP4) to go into the cells. COVID-19 may also present with overtly neurological symptoms. The proper understanding of the expression and dissemination of ACE2 in central and peripheral nerve systems is crucial to understand better the neurological morbidity caused by COVID-19. Using the STRING bioinformatic tool and references through text mining tools associated to Coronaviruses, we identified SAMHD1 as the probable link to neurological symptoms. Paralleled to the response to influenza A virus and, specifically, respiratory syncytial virus, SARS-CoV-2 evokes a response that needs robust induction of a subclass of cytokines, including the Type I and, obviously, Type III interferons as well as a few chemokines. We correlate ACE2 to the pathogenesis and neurologic complications of COVID-19 and found that SAMHD1 links to NF-κB pathway. No correlation was found with other molecules associated with Coronavirus infection, including ADAR, BST2, IRF3, IFITM3, ISG15, MX1, MX2, RNASEL, RSAD2, and VPRBP. We suggest that SAMHD1 is the molecule that may be behind the mechanisms of the neurological complications associated with COVID-19.

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The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies:CANDLE/PRAAS,SAVI, andAGS

Gedik

Lamot

Romano

et al. 2022

Arthritis & Rheumatology

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Objective Autoinflammatory type I interferonopathies, chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature/proteasome‐associated autoinflammatory syndrome (CANDLE/PRAAS), stimulator of interferon genes (STING)–associated vasculopathy with onset in infancy (SAVI), and Aicardi‐Goutières syndrome (AGS) are rare and clinically complex immunodysregulatory diseases. With emerging knowledge of genetic causes and targeted treatments, a Task Force was charged with the development of “points to consider” to improve diagnosis, treatment, and long‐term monitoring of patients with these rare diseases. Methods Members of a Task Force consisting of rheumatologists, neurologists, an immunologist, geneticists, patient advocates, and an allied health care professional formulated research questions for a systematic literature review. Then, based on literature, Delphi questionnaires, and consensus methodology, “points to consider” to guide patient management were developed. Results The Task Force devised consensus and evidence‐based guidance of 4 overarching principles and 17 points to consider regarding the diagnosis, treatment, and long‐term monitoring of patients with the autoinflammatory interferonopathies, CANDLE/PRAAS, SAVI, and AGS. Conclusion These points to consider represent state‐of‐the‐art knowledge to guide diagnostic evaluation, treatment, and management of patients with CANDLE/PRAAS, SAVI, and AGS and aim to standardize and improve care, quality of life, and disease outcomes.

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Multiple Autoimmune Disorders in Aicardi-Goutières Syndrome

Cited by 9 publications

References 9 publications

The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS

The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS

SAMHD1 as the Potential Link Between SARS-CoV-2 Infection and Neurological Complications

The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies:CANDLE/PRAAS,SAVI, andAGS

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