Research Overview

Dr. Pui Lee is a pediatric rheumatologist with research interests in autoinflammatory diseases and myeloid cell biology. His lab studies the role of immunometabolism in the development and differentiation of monocytes, a type of white blood cells that incites inflammation, with the goal of identifying treatment targets for inflammatory diseases. In addition, Dr. Lee is interested in the mechanism of immune activation in autoinflammatory diseases. He has ongoing projects focused on macrophage activation syndrome and a rare disease called deficiency of adenosine deaminase 2 (DADA2).

 

Research Background

Dr. Pui Lee is an Attending Physician in Rheumatology at Boston Children’s Hospital and an Assistant Professor in Pediatrics at Harvard Medical School. He completed the MD-PhD program at the University of Florida and subsequently finished residency and fellowship training at Boston Children's Hospital.

 

Education

Medical School

University of Florida College of Medicine
2010 Gainesville FL

Internship

Boston Children's Hospital
2011 Boston MA

Residency

Boston Children's Hospital
2013 Boston MA

Fellowship

Boston Children's Hospital
2016 Boston MA

Publications

  1. DOCK8 at the crossroads of immunodeficiency and hyperinflammation. J Allergy Clin Immunol. 2024 Dec 21. View Abstract
  2. Implications of the choroid plexus in Niemann-Pick disease Type C neuropathogenesis. Brain Behav Immun. 2025 Feb; 124:376-384. View Abstract
  3. Features of hyperinflammation link the biology of Epstein-Barr virus infection and cytokine storm syndromes. J Allergy Clin Immunol. 2024 Nov 30. View Abstract
  4. IL-4Ra signaling promotes barrier-altering oncostatin M and IL-6 production in aspirin-exacerbated respiratory disease. J Allergy Clin Immunol. 2024 Aug; 154(2):458-467.e3. View Abstract
  5. Monocytic Phagocytes in the Immunopathogenesis of Cytokine Storm Syndromes. Adv Exp Med Biol. 2024; 1448:161-171. View Abstract
  6. Elevation of IL-17 Cytokines Distinguishes Kawasaki Disease From Other Pediatric Inflammatory Disorders. Arthritis Rheumatol. 2024 02; 76(2):285-292. View Abstract
  7. Type I interferon signature and cycling lymphocytes in macrophage activation syndrome. J Clin Invest. 2023 11 15; 133(22). View Abstract
  8. In cis "benign" SOCS1 variants linked to enhanced interferon signaling and autoimmunity. J Autoimmun. 2023 11; 140:103119. View Abstract
  9. Development of a Screening Algorithm for Lung Disease in Systemic Juvenile Idiopathic Arthritis. ACR Open Rheumatol. 2023 Oct; 5(10):556-562. View Abstract
  10. Suppressor of Cytokine Signaling 1 Haploinsufficiency: A New Driver of Autoimmunity and Immunodysregulation. Rheum Dis Clin North Am. 2023 11; 49(4):757-772. View Abstract
  11. Incidence and Risk Factors for Eosinophilia and Lung Disease in Biologic-Exposed Children With Systemic Juvenile Idiopathic Arthritis. Arthritis Care Res (Hoboken). 2023 10; 75(10):2063-2072. View Abstract
  12. Comparison of disease phenotypes and mechanistic insight on causal variants in patients with DADA2. J Allergy Clin Immunol. 2023 09; 152(3):771-782. View Abstract
  13. Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus Statement. JAMA Netw Open. 2023 05 01; 6(5):e2315894. View Abstract
  14. The Multifaceted Immunology of Cytokine Storm Syndrome. J Immunol. 2023 04 15; 210(8):1015-1024. View Abstract
  15. A Cohort Study on Deficiency of ADA2 from China. J Clin Immunol. 2023 05; 43(4):835-845. View Abstract
  16. Biologics and JAK inhibitors for the treatment of monogenic systemic autoinflammatory diseases in children. J Allergy Clin Immunol. 2023 03; 151(3):607-618. View Abstract
  17. Disordered T cell-B cell interactions in autoantibody-positive inflammatory arthritis. Front Immunol. 2022; 13:1068399. View Abstract
  18. The Notch1/CD22 signaling axis disrupts Treg function in SARS-CoV-2-associated multisystem inflammatory syndrome in children. J Clin Invest. 2023 01 03; 133(1). View Abstract
  19. At the Heart of Treating Kawasaki Disease: The Search for New Approaches to Prevent Coronary Artery Aneurysms. Arthritis Rheumatol. 2023 02; 75(2):149-152. View Abstract
  20. Editorial: DADA2 and other monogenic vasculitides. Front Immunol. 2022; 13:1108853. View Abstract
  21. mTORC1 links pathology in experimental models of Still's disease and macrophage activation syndrome. Nat Commun. 2022 11 28; 13(1):6915. View Abstract
  22. SOCS1 Haploinsufficiency Presenting as Severe Enthesitis, Bone Marrow Hypocellularity, and Refractory Thrombocytopenia in a Pediatric Patient with Subsequent Response to JAK Inhibition. J Clin Immunol. 2022 11; 42(8):1766-1777. View Abstract
  23. Direct capture of neutralized RBD enables rapid point-of-care assessment of SARS-CoV-2 neutralizing antibody titer. Cell Rep Methods. 2022 08 22; 2(8):100273. View Abstract
  24. An Evidence-Based Guideline Improves Outcomes for Patients With Hemophagocytic Lymphohistiocytosis and Macrophage Activation Syndrome. J Rheumatol. 2022 Sep; 49(9):1042-1051. View Abstract
  25. Pediatric EVALI in the Age of COVID-19/MIS-C: Diagnostic Considerations. Hosp Pediatr. 2022 07 01; 12(7):e249-e254. View Abstract
  26. Identification of Distinct Inflammatory Programs and Biomarkers in Systemic Juvenile Idiopathic Arthritis and Related Lung Disease by Serum Proteome Analysis. Arthritis Rheumatol. 2022 07; 74(7):1271-1283. View Abstract
  27. Haploinsufficiency of PSMD12 Causes Proteasome Dysfunction and Subclinical Autoinflammation. Arthritis Rheumatol. 2022 06; 74(6):1083-1090. View Abstract
  28. Low-ratio somatic NLRC4 mutation causes late-onset autoinflammatory disease. Ann Rheum Dis. 2022 08; 81(8):1173-1178. View Abstract
  29. Notch1-CD22-Dependent Immune Dysregulation in the SARS-CoV2-Associated Multisystem Inflammatory Syndrome in Children. Res Sq. 2022 Apr 11. View Abstract
  30. Switching to the cyclic pentose phosphate pathway powers the oxidative burst in activated neutrophils. Nat Metab. 2022 03; 4(3):389-403. View Abstract
  31. Mechanisms of vascular inflammation in deficiency of adenosine deaminase 2 (DADA2). Semin Immunopathol. 2022 05; 44(3):269-280. View Abstract
  32. Clinical characteristics of juvenile gout and treatment response to febuxostat. Ann Rheum Dis. 2022 04; 81(4):599-600. View Abstract
  33. Deubiquitination of proteasome subunits by OTULIN regulates type I IFN production. Sci Adv. 2021 Nov 19; 7(47):eabi6794. View Abstract
  34. TNF inhibition in vasculitis management in adenosine deaminase 2 deficiency (DADA2). J Allergy Clin Immunol. 2022 05; 149(5):1812-1816.e6. View Abstract
  35. Child Neurology: Recurrent Brainstem Strokes and Aphthous Ulcers in a Child With Mutations in the ADA2 Gene. Neurology. 2021 Oct 04; 97(14):696-699. View Abstract
  36. Th1 polarization defines the synovial fluid T cell compartment in oligoarticular juvenile idiopathic arthritis. JCI Insight. 2021 09 22; 6(18). View Abstract
  37. Coagulation profiles and viscoelastic testing in multisystem inflammatory syndrome in children. Pediatr Blood Cancer. 2021 12; 68(12):e29355. View Abstract
  38. IL-1ß-driven osteoclastogenic Tregs accelerate bone erosion in arthritis. J Clin Invest. 2021 09 15; 131(18). View Abstract
  39. Lentiviral correction of enzymatic activity restrains macrophage inflammation in adenosine deaminase 2 deficiency. Blood Adv. 2021 08 24; 5(16):3174-3187. View Abstract
  40. Mechanisms underlying genetic susceptibility to multisystem inflammatory syndrome in children (MIS-C). J Allergy Clin Immunol. 2021 09; 148(3):732-738.e1. View Abstract
  41. Deficiency of Adenosine Deaminase 2 (DADA2): One Disease, Several Faces. Indian J Pediatr. 2021 08; 88(8):828-830. View Abstract
  42. Comprehensive analysis of ADA2 genetic variants and estimation of carrier frequency driven by a function-based approach. J Allergy Clin Immunol. 2022 01; 149(1):379-387. View Abstract
  43. Detailed Assessment of Left Ventricular Function in Multisystem Inflammatory Syndrome in Children, Using Strain Analysis. CJC Open. 2021 Jul; 3(7):880-887. View Abstract
  44. Socioeconomic and Racial and/or Ethnic Disparities in Multisystem Inflammatory Syndrome. Pediatrics. 2021 05; 147(5). View Abstract
  45. Deficiency of Adenosine Deaminase 2 in Adults and Children: Experience From India. Arthritis Rheumatol. 2021 02; 73(2):276-285. View Abstract
  46. Reply. Arthritis Rheumatol. 2021 01; 73(1):176-178. View Abstract
  47. Distinct clinical and immunological features of SARS-CoV-2-induced multisystem inflammatory syndrome in children. J Clin Invest. 2020 11 02; 130(11):5942-5950. View Abstract
  48. Monogenic autoinflammatory disorders: Conceptual overview, phenotype, and clinical approach. J Allergy Clin Immunol. 2020 11; 146(5):925-937. View Abstract
  49. Atrioventricular Block in Children With Multisystem Inflammatory Syndrome. Pediatrics. 2020 11; 146(5). View Abstract
  50. Immune dysregulation and multisystem inflammatory syndrome in children (MIS-C) in individuals with haploinsufficiency of SOCS1. J Allergy Clin Immunol. 2020 11; 146(5):1194-1200.e1. View Abstract
  51. NF-E2-Related Factor 2 Regulates Interferon Receptor Expression and Alters Macrophage Polarization in Lupus. Arthritis Rheumatol. 2020 10; 72(10):1707-1720. View Abstract
  52. Interstitial Lung Disease and Psoriasis in a Child With Aicardi-Goutières Syndrome. Front Immunol. 2020; 11:985. View Abstract
  53. On the Alert for Cytokine Storm: Immunopathology in COVID-19. Arthritis Rheumatol. 2020 07; 72(7):1059-1063. View Abstract
  54. Polyarteritis nodosa and deficiency of adenosine deaminase 2 - Shared genealogy, generations apart. Clin Immunol. 2020 06; 215:108411. View Abstract
  55. Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases. J Clin Invest. 2020 04 01; 130(4):1669-1682. View Abstract
  56. Th17 reprogramming of T cells in systemic juvenile idiopathic arthritis. JCI Insight. 2020 03 26; 5(6). View Abstract
  57. Serine/threonine phosphatase PP2A is essential for optimal B cell function. JCI Insight. 2020 03 12; 5(5). View Abstract
  58. Response to: 'Total adenosine deaminase highly correlated with adenosine deaminase 2 activity in serum' by Gao et al. Ann Rheum Dis. 2022 02; 81(2):e31. View Abstract
  59. Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2). J Allergy Clin Immunol. 2020 06; 145(6):1664-1672.e10. View Abstract
  60. A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1. Nature. 2020 01; 577(7788):109-114. View Abstract
  61. Differential Responsiveness of Monocyte and Macrophage Subsets to Interferon. Arthritis Rheumatol. 2020 01; 72(1):100-113. View Abstract
  62. Giant Cell Tumor of Tendon Sheath and Tendinopathy as Early Features of Early Onset Sarcoidosis. Front Pediatr. 2019; 7:480. View Abstract
  63. Adenosine deaminase 2 as a biomarker of macrophage activation syndrome in systemic juvenile idiopathic arthritis. Ann Rheum Dis. 2020 02; 79(2):225-231. View Abstract
  64. High-dimensional analysis reveals a pathogenic role of inflammatory monocytes in experimental diffuse alveolar hemorrhage. JCI Insight. 2019 08 08; 4(15). View Abstract
  65. NETing the mechanism of inflammation in DADA2. Blood. 2019 07 25; 134(4):338-339. View Abstract
  66. Megakaryocyte emperipolesis mediates membrane transfer from intracytoplasmic neutrophils to platelets. Elife. 2019 05 01; 8. View Abstract
  67. Tofacitinib Treatment of Refractory Systemic Juvenile Idiopathic Arthritis. Pediatrics. 2019 05; 143(5). View Abstract
  68. Differential attenuation of ß2 integrin-dependent and -independent neutrophil migration by Ly6G ligation. Blood Adv. 2019 02 12; 3(3):256-267. View Abstract
  69. Vasculopathy, Immunodeficiency, and Bone Marrow Failure: The Intriguing Syndrome Caused by Deficiency of Adenosine Deaminase 2. Front Pediatr. 2018; 6:282. View Abstract
  70. Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2. J Allergy Clin Immunol. 2018 10; 142(4):1363-1365.e8. View Abstract
  71. A quality improvement initiative to increase access to food challenges. Pediatr Allergy Immunol. 2018 06; 29(4):447-449. View Abstract
  72. Stromal cell cadherin-11 regulates adipose tissue inflammation and diabetes. J Clin Invest. 2017 Sep 01; 127(9):3300-3312. View Abstract
  73. The metabolic regulator mTORC1 controls terminal myeloid differentiation. Sci Immunol. 2017 May 26; 2(11). View Abstract
  74. Pathogenesis of Diffuse Alveolar Hemorrhage in Murine Lupus. Arthritis Rheumatol. 2017 06; 69(6):1280-1293. View Abstract
  75. A Novel Mechanism for Generating the Interferon Signature in Lupus: Opsonization of Dead Cells by Complement and IgM. Arthritis Rheumatol. 2016 12; 68(12):2917-2928. View Abstract
  76. The presentation and management of granulomatosis with polyangiitis (Wegener's Granulomatosis) in the pediatric airway. Laryngoscope. 2017 01; 127(1):233-240. View Abstract
  77. Maintenance of autoantibody production in pristane-induced murine lupus. Arthritis Res Ther. 2015 Dec 30; 17:384. View Abstract
  78. Effects of Long-Term Type I Interferon on the Arterial Wall and Smooth Muscle Progenitor Cells Differentiation. Arterioscler Thromb Vasc Biol. 2016 Feb; 36(2):266-73. View Abstract
  79. Renal involvement in the immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) disorder. Pediatr Nephrol. 2015 Jul; 30(7):1197-202. View Abstract
  80. Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome associated with neonatal epidermolysis bullosa acquisita. Pediatr Dermatol. 2015 May-Jun; 32(3):e74-7. View Abstract
  81. Hypercalcemia and miliary sarcoidosis in a 15-year-old boy. Arthritis Rheum. 2013 Aug; 65(8):2112. View Abstract
  82. Ly6 family proteins in neutrophil biology. J Leukoc Biol. 2013 Oct; 94(4):585-94. View Abstract
  83. Maintenance of anti-Sm/RNP autoantibody production by plasma cells residing in ectopic lymphoid tissue and bone marrow memory B cells. J Immunol. 2013 Apr 15; 190(8):3916-27. View Abstract
  84. Toll-like receptor 3 ligand, polyIC, induces proteinuria and glomerular CD80, and increases urinary CD80 in mice. Nephrol Dial Transplant. 2013 Jun; 28(6):1439-46. View Abstract
  85. Pleiotropic IFN-dependent and -independent effects of IRF5 on the pathogenesis of experimental lupus. J Immunol. 2012 Apr 15; 188(8):4113-21. View Abstract
  86. Pathogenic role of B cells in the development of diffuse alveolar hemorrhage induced by pristane. Lab Invest. 2011 Oct; 91(10):1540-50. View Abstract
  87. B cells enhance early innate immune responses during bacterial sepsis. J Exp Med. 2011 Aug 01; 208(8):1673-82. View Abstract
  88. IL-1a modulates neutrophil recruitment in chronic inflammation induced by hydrocarbon oil. J Immunol. 2011 Feb 01; 186(3):1747-54. View Abstract
  89. Monocyte and macrophage abnormalities in systemic lupus erythematosus. Arch Immunol Ther Exp (Warsz). 2010 Oct; 58(5):355-64. View Abstract
  90. Monocyte surface expression of Fcgamma receptor RI (CD64), a biomarker reflecting type-I interferon levels in systemic lupus erythematosus. Arthritis Res Ther. 2010; 12(3):R90. View Abstract
  91. Endogenous type-I interferon activity is not associated with depression or fatigue in systemic lupus erythematosus. J Neuroimmunol. 2010 Jun; 223(1-2):13-9. View Abstract
  92. Type I interferon modulates monocyte recruitment and maturation in chronic inflammation. Am J Pathol. 2009 Nov; 175(5):2023-33. View Abstract
  93. Induction of autoimmunity by pristane and other naturally occurring hydrocarbons. Trends Immunol. 2009 Sep; 30(9):455-64. View Abstract
  94. Idiopathic nephrotic syndrome and atopy: is there a common link? Am J Kidney Dis. 2009 Nov; 54(5):945-53. View Abstract
  95. B cell proliferation, somatic hypermutation, class switch recombination, and autoantibody production in ectopic lymphoid tissue in murine lupus. J Immunol. 2009 Apr 01; 182(7):4226-36. View Abstract
  96. Increased expression of FcgammaRI/CD64 on circulating monocytes parallels ongoing inflammation and nephritis in lupus. Arthritis Res Ther. 2009; 11(1):R6. View Abstract
  97. TLR7-dependent and FcgammaR-independent production of type I interferon in experimental mouse lupus. J Exp Med. 2008 Dec 22; 205(13):2995-3006. View Abstract
  98. Colocalization of antigen-specific B and T cells within ectopic lymphoid tissue following immunization with exogenous antigen. J Immunol. 2008 Sep 01; 181(5):3259-67. View Abstract
  99. A novel type I IFN-producing cell subset in murine lupus. J Immunol. 2008 Apr 01; 180(7):5101-8. View Abstract
  100. Type I interferon as a novel risk factor for endothelial progenitor cell depletion and endothelial dysfunction in systemic lupus erythematosus. Arthritis Rheum. 2007 Nov; 56(11):3759-69. View Abstract
  101. Deficiency of the type I interferon receptor protects mice from experimental lupus. Arthritis Rheum. 2007 Nov; 56(11):3770-83. View Abstract
  102. Type I interferon production by tertiary lymphoid tissue developing in response to 2,6,10,14-tetramethyl-pentadecane (pristane). Am J Pathol. 2006 Apr; 168(4):1227-40. View Abstract
  103. Short-term atorvastatin treatment enhances specific antibody production following tetanus toxoid vaccination in healthy volunteers. Vaccine. 2006 May 08; 24(19):4035-40. View Abstract
  104. Association of anti-nucleoprotein autoantibodies with upregulation of Type I interferon-inducible gene transcripts and dendritic cell maturation in systemic lupus erythematosus. Clin Immunol. 2005 Dec; 117(3):238-50. View Abstract
  105. The nuclear IkappaB protein IkappaBNS selectively inhibits lipopolysaccharide-induced IL-6 production in macrophages of the colonic lamina propria. J Immunol. 2005 Mar 15; 174(6):3650-7. View Abstract

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