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Our Research

At Boston Children’s Hospital, our discoveries in the laboratory strengthen the care we provide at each child's bedside. In addition to providing expert care today, we’re searching for ways to improve the lives of children with SAIDs tomorrow by conducting research to understand the disease better and find new treatments. 

Research highlights

  • In a recent study, we found that tonsillectomy is an effective treatment for curing patients with PFAPA. Researchers in our Rheumatology Program continue to test the tonsils removed from PFAPA patients to understand better what might cause SAID and how best to treat children. 
  • We created a research app called Feverprints to collect temperatures from hundreds of participants from around the country. We found that average oral body temperatures are usually 97.7℉, and that fevers should be considered with temperatures 99.5℉ or higher. However, there was much variation of average temperatures during the day, with the lowest temperatures occurring around 4 a.m. and the highest temperatures occurring around 6 p.m. Thus, a temperature of 99.5℉ in the afternoon may be within normal limits, whereas the same temperature occurring at 4 a.m. should be considered a fever.
  • In another study, we described a gene defect (RELA) as the cause of the SAID in a family.
  • We identified that patient’s polyarticular arthritis, vasculitis, and lung disease was caused by a SAID called SAVI after similar unexplained conditions in three generations of the patient’s family.
  • We have shown colchicine can be effective in majority of patients with undifferentiated SAID in the largest cohort of these patients published so far.
  • We have worked to establish consensus treatment protocols for chronic recurrent multifocal osteomyelitis (CRMO, also known as chronic nonbacterial osteomyelitis, CNO).
  • We collaborated with an international group to make recommendations on the management of people with IL-1 mediated autoinflammatory diseases.
  • Doctors from the Autoinflammatory Diseases Clinic worked with Boston Children’s immunology researchers to discover a new SAID by sequencing the gene causing the disease:  https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5502421/.

Featured publications

  1. Identifying domains for CNO and SAPHO: A scoping review to create domains from existing outcomes by the OMERACT CNO and SAPHO working group; Nov 21, 2025; pubmed:41270570. View on PubMed
  2. Congruence Between Child Self-Reported and Caregiver-Proxy Health-Related Quality of Life in Children with Juvenile Idiopathic Arthritis and Systemic Lupus Erythematosus; Nov 1, 2025; pubmed:41176344. View on PubMed
  3. Barriers to Surgical Care in Craniofacial Scleroderma (Parry-Romberg Syndrome); Oct 31, 2025; pubmed:41172017. View on PubMed
  4. Diagnostic implications and correlates of plasma ADA2 activity and ADA2 variants; Oct 28, 2025; pubmed:41147740. View on PubMed
  5. Clinical Features and Outcome Measures Across Still Disease (Systemic Juvenile Idiopathic Arthritis and Adult-Onset Still Disease) Cohorts Worldwide: A Systematic Literature Review; Oct 1, 2025; pubmed:41033820. View on PubMed
  6. Juvenile localized scleroderma: a large retrospective cohort study from a tertiary care center; Jun 6, 2025; pubmed:40481578. View on PubMed
  7. EULAR/American College of Rheumatology Classification Criteria for Pediatric Chronic Nonbacterial Osteomyelitis; May 9, 2025; pubmed:40342207. View on PubMed
  8. Sex Differences in B Cells From the Joints of Children With Oligoarticular Juvenile Idiopathic Arthritis; Mar 18, 2025; pubmed:40098343. View on PubMed
  9. Improvement in dermatomyositis-associated muscle disease with anifrolumab; Mar 4, 2025; pubmed:40036364. View on PubMed
  10. EULAR/ACR classification criteria for paediatric chronic nonbacterial osteomyelitis (CNO); Feb 18, 2025; pubmed:39966038. View on PubMed
  11. Comparison of 3D facial photographs and clinical documentation in patients with craniofacial morphea; Dec 3, 2024; pubmed:39624764. View on PubMed
  12. Features of hyperinflammation link the biology of Epstein-Barr virus infection and cytokine storm syndromes; Dec 2, 2024; pubmed:39622297. View on PubMed
  13. Three-dimensional stereophotogrammetry: an effective tool for detecting disease progression in lupus erythematosus panniculitis; Nov 20, 2024; pubmed:39566107. View on PubMed
  14. Disease-Tailored Brief Intervention for Alcohol Use Among Youths With Chronic Medical Conditions: A Secondary Analysis of a Randomized Clinical Trial; Jul 10, 2024; pubmed:38985475. View on PubMed
  15. Severe Features of Systemic Juvenile Idiopathic Arthritis in Patients With Congenital Heart Disease; Jun 2, 2024; pubmed:38825355. View on PubMed
  16. Capturing the Range of Disease Involvement in Localized Scleroderma: The Localized Scleroderma Total Severity Scale; Dec 27, 2023; pubmed:38148547. View on PubMed
  17. Corrigendum: Increase in pediatric recurrent fever evaluations during the first year of the COVID-19 pandemic in North America; Nov 29, 2023; pubmed:38027299. View on PubMed
  18. Rapid Improvement in Recalcitrant Cutaneous Juvenile Dermatomyositis With Anifrolumab Treatment; Nov 11, 2023; pubmed:37950917. View on PubMed
  19. Use of 3-Dimensional Stereophotogrammetry to Detect Disease Progression in Craniofacial Morphea; Oct 11, 2023; pubmed:37819665. View on PubMed
  20. Type I interferon signature and cycling lymphocytes in macrophage activation syndrome; Sep 26, 2023; pubmed:37751296. View on PubMed
  21. Development of a Screening Algorithm for Lung Disease in Systemic Juvenile Idiopathic Arthritis; Sep 9, 2023; pubmed:37688362. View on PubMed
  22. Impact of Risk Factors on COVID-19 Outcomes in Unvaccinated People With Rheumatic Diseases: A Comparative Analysis of Pandemic Epochs Using the COVID-19 Global Rheumatology Alliance Registry; Aug 29, 2023; pubmed:37643903. View on PubMed
  23. Elevation of IL-17 Cytokines Distinguishes Kawasaki Disease From Other Pediatric Inflammatory Disorders; Aug 23, 2023; pubmed:37610270. View on PubMed
  24. Increase in pediatric recurrent fever evaluations during the first year of the COVID-19 pandemic in North America; Aug 21, 2023; pubmed:37601132. View on PubMed
  25. Update on autoinflammatory diseases; Jul 11, 2023; pubmed:37433216. View on PubMed
  26. Feasibility of Conducting Comparative Effectiveness Research and Validation of a Clinical Disease Activity Score for Chronic Nonbacterial Osteomyelitis; Jul 3, 2023; pubmed:37399459. View on PubMed
  27. Incidence and Risk Factors for Eosinophilia and Lung Disease in Biologic-Exposed Children With Systemic Juvenile Idiopathic Arthritis; Apr 11, 2023; pubmed:37038961. View on PubMed
  28. Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis Syndrome and Syndrome of Unexplained Recurrent Fevers in Children and Adults; Mar 23, 2023; pubmed:36958521. View on PubMed
  29. Case report: Novel variants in RELA associated with familial Behcet's-like disease; Mar 17, 2023; pubmed:36926348. View on PubMed
  30. Botulinum toxin for refractory Raynaud's phenomenon: A "how to" guide for pediatric patients; Feb 25, 2023; pubmed:36840449. View on PubMed
  31. Case 3-2023: A 16-Year-Old Girl with Abdominal Pain and Bloody Diarrhea; Jan 31, 2023; pubmed:36720137. View on PubMed
  32. Biologics and JAK inhibitors for the treatment of monogenic systemic autoinflammatory diseases in children; Jan 27, 2023; pubmed:36707349. View on PubMed
  33. Construct validity of Patient-Reported Outcomes Measurement Information System Paediatric measures in juvenile idiopathic arthritis and systemic lupus erythematosus: cross-sectional evaluation; Jan 27, 2023; pubmed:36707118. View on PubMed
  34. Disordered T cell-B cell interactions in autoantibody-positive inflammatory arthritis; Jan 23, 2023; pubmed:36685593. View on PubMed
  35. How Have the Diagnosis and Treatment of Chronic Recurrent Multifocal Osteomyelitis Changed Over Time?; Nov 13, 2022; pubmed:36372159. View on PubMed
  36. Association Between Race/Ethnicity and COVID-19 Outcomes in Systemic Lupus Erythematosus Patients From the United States: Data From the COVID-19 Global Rheumatology Alliance; Oct 14, 2022; pubmed:36239292. View on PubMed
  37. Prolonged COVID-19 symptom duration in people with systemic autoimmune rheumatic diseases: results from the COVID-19 Global Rheumatology Alliance Vaccine Survey; Sep 14, 2022; pubmed:36104117. View on PubMed
  38. Factors associated with severe COVID-19 in people with idiopathic inflammatory myopathy: results from the COVID-19 Global Rheumatology Alliance physician-reported registry; Sep 13, 2022; pubmed:36100295. View on PubMed
  39. Environmental and societal factors associated with COVID-19-related death in people with rheumatic disease: an observational study; Aug 1, 2022; pubmed:35909441. View on PubMed
  40. Development of a Prediction Model for COVID-19 Acute Respiratory Distress Syndrome in Patients With Rheumatic Diseases: Results From the Global Rheumatology Alliance Registry; Jul 23, 2022; pubmed:35869686. View on PubMed
  41. An Evidence-Based Guideline Improves Outcomes for Patients With Hemophagocytic Lymphohistiocytosis and Macrophage Activation Syndrome; Jul 15, 2022; pubmed:35840156. View on PubMed
  42. Pilot use of 3-dimensional photography to aid clinical decision-making in craniofacial morphea; Jul 7, 2022; pubmed:35794965. View on PubMed
  43. Dysregulation of the cGAS-STING Pathway in Monogenic Autoinflammation and Lupus; Jun 13, 2022; pubmed:35693769. View on PubMed
  44. The 2021 EULAR/American College of Rheumatology points to consider for diagnosis, management and monitoring of the interleukin-1 mediated autoinflammatory diseases: cryopyrin-associated periodic syndromes, tumour necrosis factor receptor-associated periodic syndrome, mevalonate kinase deficiency, and deficiency of the interleukin-1 receptor antagonist; May 27, 2022; pubmed:35623638. View on PubMed
  45. The 2021 EULAR/American College of Rheumatology Points to Consider for Diagnosis, Management and Monitoring of the Interleukin-1 Mediated Autoinflammatory Diseases: Cryopyrin-Associated Periodic Syndromes, Tumour Necrosis Factor Receptor-Associated Periodic Syndrome, Mevalonate Kinase Deficiency, and Deficiency of the Interleukin-1 Receptor Antagonist; May 27, 2022; pubmed:35621220. View on PubMed
  46. Genetic diagnosis of immune dysregulation can lead to targeted therapy for interstitial lung disease: A case series and single center approach; Apr 15, 2022; pubmed:35426264. View on PubMed
  47. Dental Anomalies in Parry-Romberg Syndrome: A 40-Year Retrospective Review; Mar 14, 2022; pubmed:35285296. View on PubMed
  48. Features predicting colchicine efficacy in treatment of children with undefined systemic autoinflammatory disease: A retrospective cohort study; Feb 14, 2022; pubmed:35156637. View on PubMed
  49. Early impacts of the COVID-19 pandemic on children with pediatric rheumatic diseases; Feb 14, 2022; pubmed:35156622. View on PubMed
  50. Engaging trainees within the virtual classroom: Teaching strategies for rheumatologists in a pandemic; Feb 14, 2022; pubmed:35156621. View on PubMed
  51. COVID-19 vaccine perceptions and uptake: results from the COVID-19 Global Rheumatology Alliance Vaccine Survey; Feb 14, 2022; pubmed:35156060. View on PubMed
  52. Feasibility and Efficacy of Online Strategies to Recruit Parents of Children With Rheumatic Diseases for Research; Feb 12, 2022; pubmed:35150085. View on PubMed
  53. The Promises and Perils of Social Media for Pediatric Rheumatology; Nov 20, 2021; pubmed:34798949. View on PubMed
  54. Outcomes of COVID-19 in patients with primary systemic vasculitis or polymyalgia rheumatica from the COVID-19 Global Rheumatology Alliance physician registry: a retrospective cohort study; Nov 15, 2021; pubmed:34778843. View on PubMed
  55. Association Between Tumor Necrosis Factor Inhibitors and the Risk of Hospitalization or Death Among Patients With Immune-Mediated Inflammatory Disease and COVID-19; Oct 18, 2021; pubmed:34661663. View on PubMed
  56. Implementing a Virtual Flipped Classroom in a Rheumatology Fellowship Program; Sep 23, 2021; pubmed:34553499. View on PubMed
  57. Early experience of COVID-19 vaccination in adults with systemic rheumatic diseases: results from the COVID-19 Global Rheumatology Alliance Vaccine Survey; Sep 8, 2021; pubmed:34493645. View on PubMed
  58. COVID-19 in Pregnant Women With Rheumatic Disease: Data From the COVID-19 Global Rheumatology Alliance; Sep 2, 2021; pubmed:34470798. View on PubMed
  59. Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome: A review; Aug 25, 2021; pubmed:34430824. View on PubMed
  60. Th1 polarization defines the synovial fluid T cell compartment in oligoarticular juvenile idiopathic arthritis; Aug 17, 2021; pubmed:34403374. View on PubMed
  61. Immediate effect of the COVID-19 pandemic on patient health, health-care use, and behaviours: results from an international survey of people with rheumatic diseases; Jul 28, 2021; pubmed:34316727. View on PubMed
  62. Microbiome is not linked to clinical disease severity of familial Mediterranean fever in an international cohort of children; Jul 12, 2021; pubmed:34251310. View on PubMed
  63. Establishing core domain sets for Chronic Nonbacterial Osteomyelitis (CNO) and Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis (SAPHO): A report from the OMERACT 2020 special interest group; Jun 28, 2021; pubmed:34176644. View on PubMed
  64. Associations of baseline use of biologic or targeted synthetic DMARDs with COVID-19 severity in rheumatoid arthritis: Results from the COVID-19 Global Rheumatology Alliance physician registry; May 29, 2021; pubmed:34049860. View on PubMed
  65. Comprehensive analysis of ADA2 genetic variants and estimation of carrier frequency driven by a function-based approach; May 18, 2021; pubmed:34004258. View on PubMed
  66. Factors associated with COVID-19-related death in people with rheumatic diseases: results from the COVID-19 Global Rheumatology Alliance physician-reported registry; Jan 28, 2021; pubmed:33504483. View on PubMed
  67. Multiple Emergency Department Visits for a Diagnosis of Kawasaki Disease: An Examination of Risk Factors and Outcomes; Jan 16, 2021; pubmed:33453202. View on PubMed
  68. Association of Race and Ethnicity With COVID-19 Outcomes in Rheumatic Disease: Data From the COVID-19 Global Rheumatology Alliance Physician Registry; Nov 4, 2020; pubmed:33146001. View on PubMed
  69. Removing barriers and disparities in health: lessons from the COVID-19 pandemic; Oct 8, 2020; pubmed:33028959. View on PubMed
  70. Burden of illness in hereditary periodic fevers: a multinational observational patient diary study; Oct 7, 2020; pubmed:33025894. View on PubMed
  71. Safety Protocols for Adolescent Substance Use Research in Clinical Settings; Sep 30, 2020; pubmed:32994123. View on PubMed
  72. The COVID-19 Global Rheumatology Alliance: evaluating the rapid design and implementation of an international registry against best practice; Aug 14, 2020; pubmed:32789449. View on PubMed
  73. Conducting research in a pandemic: The power of social media; Jul 28, 2020; pubmed:32716838. View on PubMed
  74. Distinct clinical and immunological features of SARS-CoV-2-induced multisystem inflammatory syndrome in children; Jul 24, 2020; pubmed:32701511. View on PubMed
  75. Common genetic susceptibility loci link PFAPA syndrome, Behçet's disease, and recurrent aphthous stomatitis; Jun 11, 2020; pubmed:32518111. View on PubMed
  76. Characteristics associated with hospitalisation for COVID-19 in people with rheumatic disease: data from the COVID-19 Global Rheumatology Alliance physician-reported registry; May 31, 2020; pubmed:32471903. View on PubMed
  77. Adult-Onset Autoinflammatory Syndromes; May 27, 2020; pubmed:32453290. View on PubMed
  78. Capturing Patient-Reported Outcomes During the COVID-19 Pandemic: Development of the COVID-19 Global Rheumatology Alliance Patient Experience Survey; May 10, 2020; pubmed:32386125. View on PubMed
  79. The Rheumatology Community responds to the COVID-19 pandemic: the establishment of the COVID-19 global rheumatology alliance; May 7, 2020; pubmed:32374851. View on PubMed
  80. Rheumatic disease and COVID-19: initial data from the COVID-19 Global Rheumatology Alliance provider registries; Apr 21, 2020; pubmed:32309814. View on PubMed
  81. Inflammatory manifestations in patients with Shwachman-Diamond syndrome: A novel phenotype; Apr 16, 2020; pubmed:32293785. View on PubMed
  82. Consensus treatment plans for periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome (PFAPA): a framework to evaluate treatment responses from the childhood arthritis and rheumatology research alliance (CARRA) PFAPA work group; Apr 16, 2020; pubmed:32293478. View on PubMed
  83. Th17 reprogramming of T cells in systemic juvenile idiopathic arthritis; Mar 28, 2020; pubmed:32213704. View on PubMed
  84. Adenosine deaminase 2 as a biomarker of macrophage activation syndrome in systemic juvenile idiopathic arthritis; Nov 11, 2019; pubmed:31707357. View on PubMed
  85. Initial Results from a Pilot Comparative Effectiveness Study of 3 Methotrexate-based Consensus Treatment Plans for Juvenile Localized Scleroderma; Oct 17, 2019; pubmed:31615917. View on PubMed
  86. Developing comparative effectiveness studies for a rare, understudied pediatric disease: lessons learned from the CARRA juvenile localized scleroderma consensus treatment plan pilot study; Jul 17, 2019; pubmed:31307476. View on PubMed
  87. Risk Model Development and Validation for Prediction of Coronary Artery Aneurysms in Kawasaki Disease in a North American Population; May 28, 2019; pubmed:31130036. View on PubMed
  88. Screening and Counseling for Alcohol Use in Adolescents With Chronic Medical Conditions in the Ambulatory Setting; May 25, 2019; pubmed:31122509. View on PubMed
  89. Classification criteria for autoinflammatory recurrent fevers; Apr 26, 2019; pubmed:31018962. View on PubMed
  90. Calm in the midst of cytokine storm: a collaborative approach to the diagnosis and treatment of hemophagocytic lymphohistiocytosis and macrophage activation syndrome; Feb 16, 2019; pubmed:30764840. View on PubMed
  91. Vasculitis in Systemic Autoinflammatory Diseases; Dec 19, 2018; pubmed:30560109. View on PubMed
  92. Targeting cytokines to treat autoinflammatory diseases; Nov 6, 2018; pubmed:30394352. View on PubMed
  93. Impact of biologics on disease course in systemic onset juvenile idiopathic arthritis; Sep 22, 2018; pubmed:30238379. View on PubMed
  94. Using Questions to Enhance Rheumatology Education; Sep 18, 2018; pubmed:30221476. View on PubMed
  95. The patient journey to diagnosis and treatment of autoinflammatory diseases; Sep 8, 2018; pubmed:30189864. View on PubMed
  96. Using Smartphone Crowdsourcing to Redefine Normal and Febrile Temperatures in Adults: Results from the Feverprints Study; Aug 15, 2018; pubmed:30105481. View on PubMed
  97. In silico validation of the Autoinflammatory Disease Damage Index; Aug 6, 2018; pubmed:30077992. View on PubMed
  98. <em>De novo ATP1A3</em> and compound heterozygous <em>NLRP3</em> mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome; Jun 21, 2018; pubmed:29922587. View on PubMed
  99. An international delphi survey for the definition of the variables for the development of new classification criteria for periodic fever aphtous stomatitis pharingitis cervical adenitis (PFAPA); Apr 20, 2018; pubmed:29669569. View on PubMed
  100. Adding patient-reported outcomes to a multisite registry to quantify quality of life and experiences of disease and treatment for youth with juvenile idiopathic arthritis; Apr 13, 2018; pubmed:29645010. View on PubMed