Current Environment: Production

Medical Services

Specialties

Programs & Services

Languages

  • English

Education

Undergraduate School

Tufts University

Boston, MA

Graduate School

Albert Einstein College of Medicine

New York, NY

Medical School

Albert Einstein College of Medicine

New York, NY

Residency

Brigham and Women's Hospital

Boston, MA

Fellowship

Massachusetts General Hospital/Harvard Medical School

Boston, MA

Certifications

  • American Board of Internal Medicine (Gastroenterology)

Professional History

Dr. Snapper serves as an expert for the Department of Gastroenterology for Boston Children's Hospital Precision Medicine Service. For more information about the Precision Medicine Service please visit bostonchildrens.org/precisionmed.

Media

Caregiver Profile

Meet Dr. Scott Snapper

Publications

  1. Expert recommendations to standardize transcriptomic analysis in inflammatory bowel disease clinical trials. J Crohns Colitis. 2025 May 08; 19(5). View Abstract

  2. Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort. NPJ Genom Med. 2025 Feb 28; 10(1):17. View Abstract

  3. Epstein-Barr Virus Exposure Precedes Crohn`s Disease Development. Gastroenterology. 2025 Feb 24. View Abstract

  4. Human colon stem cells are the principal epithelial responders to bacterial antigens. bioRxiv. 2025 Feb 08. View Abstract

  5. Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. NPJ Genom Med. 2024 Dec 02; 9(1):60. View Abstract

  6. Comprehensive evaluation and practical guideline of gating methods for high-dimensional cytometry data: manual gating, unsupervised clustering, and auto-gating. Brief Bioinform. 2024 Nov 22; 26(1). View Abstract

  7. Human ITGAV variants are associated with immune dysregulation, brain abnormalities, and colitis. J Exp Med. 2024 Dec 02; 221(12). View Abstract

  8. Type III interferons induce pyroptosis in gut epithelial cells and impair mucosal repair. Cell. 2024 Dec 26; 187(26):7533-7550.e23. View Abstract

  9. Spatiotemporal coordination of actin regulators generates invasive protrusions in cell-cell fusion. Nat Cell Biol. 2024 Nov; 26(11):1860-1877. View Abstract

  10. Early Life Exposure to Parental Crohn's Disease Is Associated With Offspring's Gut Microbiome, Gut Permeability, and Increased Risk of Future Crohn's Disease. Gastroenterology. 2025 Feb; 168(2):385-388.e3. View Abstract

  11. Branched actin polymerization drives invasive protrusion formation to promote myoblast fusion during skeletal muscle regeneration. bioRxiv. 2024 Oct 08. View Abstract

  12. Efficacy and Safety of Anti-Tumor Necrosis Factor Alpha in Very Early Onset Inflammatory Bowel Disease. Inflamm Bowel Dis. 2024 09 03; 30(9):1443-1453. View Abstract

  13. Breaking Down Barriers: Epithelial Contributors to Monogenic IBD Pathogenesis. Inflamm Bowel Dis. 2024 07 03; 30(7):1189-1206. View Abstract

  14. Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort. medRxiv. 2024 May 23. View Abstract

  15. Surgery for Crohn's Disease Is Associated With a Dysbiotic Microbiome and Metabolome: Results From Two Prospective Cohorts. Cell Mol Gastroenterol Hepatol. 2024; 18(3):101357. View Abstract

  16. Bacterial Sphingolipids Exacerbate Colitis by Inhibiting ILC3-derived IL-22 Production. Cell Mol Gastroenterol Hepatol. 2024; 18(2):101350. View Abstract

  17. Response to Letter to the Editor: "Failure Rate of Antitumor Necrosis Factor Alpha Biologics in Very Early Onset Inflammatory Bowel Disease". Inflamm Bowel Dis. 2024 03 01; 30(3):513-514. View Abstract

  18. Catalyzing change: Implementing standardised reporting in monogenic inflammatory bowel disease research. J Pediatr Gastroenterol Nutr. 2024 Apr; 78(4):759-762. View Abstract

  19. Anti-infliximab antibodies and low infliximab levels correlate with drug discontinuation in pediatric inflammatory bowel disease. J Pediatr Gastroenterol Nutr. 2024 02; 78(2):261-271. View Abstract

  20. Outcomes of hematopoietic stem cell gene therapy for Wiskott-Aldrich syndrome. Blood. 2023 10 12; 142(15):1281-1296. View Abstract

  21. Progression of Pediatric Crohn's Disease Is Associated With Anti-Tumor Necrosis Factor Timing and Body Mass Index Z-Score Normalization. Clin Gastroenterol Hepatol. 2024 02; 22(2):368-376.e4. View Abstract

  22. Precision medicine in monogenic inflammatory bowel disease: proposed mIBD REPORT standards. Nat Rev Gastroenterol Hepatol. 2023 Dec; 20(12):810-828. View Abstract

  23. Intestinal microbiome and metabolome signatures in patients with chronic granulomatous disease. J Allergy Clin Immunol. 2023 12; 152(6):1619-1633.e11. View Abstract

  24. Clinical Remission of Severe Crohn's Disease with Empagliflozin Monotherapy in a Pediatric Patient with Glycogen Storage Disease Type 1b. JPGN Rep. 2023 Nov; 4(4):e356. View Abstract

  25. Editorial: Inborn errors of immunity and mucosal immunity. Front Immunol. 2023; 14:1208798. View Abstract

  26. Identifying high-impact variants and genes in exomes of Ashkenazi Jewish inflammatory bowel disease patients. Nat Commun. 2023 04 20; 14(1):2256. View Abstract

  27. Low-Dose Interleukin 2 for the Treatment of Moderate to Severe Ulcerative Colitis. Gastroenterology. 2023 08; 165(2):492-495.e2. View Abstract

  28. The IL-10 receptor inhibits cell extrinsic signals necessary for STAT1-dependent macrophage accumulation during colitis. Mucosal Immunol. 2023 06; 16(3):233-249. View Abstract

  29. Vertebral Compression Fractures in Very Early Onset Inflammatory Bowel Disease. JPGN Rep. 2023 Feb; 4(1):e283. View Abstract

  30. Human MD2 deficiency-an inborn error of immunity with pleiotropic features. J Allergy Clin Immunol. 2023 03; 151(3):791-796.e7. View Abstract

  31. RIPK1 mutations causing infantile-onset IBD with inflammatory and fistulizing features. Front Immunol. 2022; 13:1041315. View Abstract

  32. Pathogenic Interleukin-10 Receptor Alpha Variants in Humans - Balancing Natural Selection and Clinical Implications. J Clin Immunol. 2023 02; 43(2):495-511. View Abstract

  33. Identification of environmental factors that promote intestinal inflammation. Nature. 2022 11; 611(7937):801-809. View Abstract

  34. Clinical Phenotypes and Outcomes in Monogenic Versus Non-monogenic Very Early Onset Inflammatory Bowel Disease. J Crohns Colitis. 2022 Sep 08; 16(9):1380-1396. View Abstract

  35. Inflammatory Bowel Disease and Cardiovascular Diseases. Am J Med. 2022 12; 135(12):1453-1460. View Abstract

  36. Cytotoxic T Lymphocyte Antigen 4 Haploinsufficiency Presenting As Refractory Celiac-Like Disease: Case Report. Front Immunol. 2022; 13:894648. View Abstract

  37. Author Correction: Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease. Nat Commun. 2022 Jun 22; 13(1):3576. View Abstract

  38. Bone marrow adiposity in pediatric Crohn's disease. Bone. 2022 09; 162:116453. View Abstract

  39. Targeted RNAseq Improves Clinical Diagnosis of Very Early-Onset Pediatric Immune Dysregulation. J Pers Med. 2022 Jun 01; 12(6). View Abstract

  40. Utilization of Antitumor Necrosis Factor Biologics in Very Early Onset Inflammatory Bowel Disease: A Multicenter Retrospective Cohort Study From North America. J Pediatr Gastroenterol Nutr. 2022 07 01; 75(1):64-69. View Abstract

  41. Mucus sialylation determines intestinal host-commensal homeostasis. Cell. 2022 03 31; 185(7):1172-1188.e28. View Abstract

  42. Valosin-containing protein-regulated endoplasmic reticulum stress causes NOD2-dependent inflammatory responses. Sci Rep. 2022 03 10; 12(1):3906. View Abstract

  43. Author Correction: Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice. Nat Genet. 2022 Feb; 54(2):213. View Abstract

  44. The Development and Initial Findings of A Study of a Prospective Adult Research Cohort with Inflammatory Bowel Disease (SPARC IBD). Inflamm Bowel Dis. 2022 02 01; 28(2):192-199. View Abstract

  45. Efficacy and Safety of High-dose Cholecalciferol in Patients With Inflammatory Bowel Disease Receiving Infliximab. J Pediatr Gastroenterol Nutr. 2022 04 01; 74(4):476-483. View Abstract

  46. CCR2 promotes monocyte recruitment and intestinal inflammation in mice lacking the interleukin-10 receptor. Sci Rep. 2022 01 10; 12(1):452. View Abstract

  47. Pediatric Gastrointestinal Histopathology in Patients With Tetratricopeptide Repeat Domain 7A (TTC7A) Germline Mutations: A Rare Condition Leading to Multiple Intestinal Atresias, Severe Combined Immunodeficiency, and Congenital Enteropathy. Am J Surg Pathol. 2022 06 01; 46(6):846-853. View Abstract

  48. Constitutive activation of WASp in X-linked neutropenia renders neutrophils hyperactive. J Clin Invest. 2021 12 01; 131(23). View Abstract

  49. An Integrated Taxonomy for Monogenic Inflammatory Bowel Disease. Gastroenterology. 2022 03; 162(3):859-876. View Abstract

  50. Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation. J Crohns Colitis. 2021 Nov 08; 15(11):1908-1919. View Abstract

  51. Utilizing a reductionist model to study host-microbe interactions in intestinal inflammation. Microbiome. 2021 11 03; 9(1):215. View Abstract

  52. Association of Baseline Luminal Narrowing With Ileal Microbial Shifts and Gene Expression Programs and Subsequent Transmural Healing in Pediatric Crohn Disease. Inflamm Bowel Dis. 2021 10 20; 27(11):1707-1718. View Abstract

  53. Restored Macrophage Function Ameliorates Disease Pathophysiology in a Mouse Model for IL10 Receptor-deficient Very Early Onset Inflammatory Bowel Disease. J Crohns Colitis. 2021 Sep 25; 15(9):1588-1595. View Abstract

  54. Publisher Correction: Live cell tagging tracking and isolation for spatial transcriptomics using photoactivatable cell dyes. Nat Commun. 2021 Sep 03; 12(1):5361. View Abstract

  55. Live cell tagging tracking and isolation for spatial transcriptomics using photoactivatable cell dyes. Nat Commun. 2021 08 17; 12(1):4995. View Abstract

  56. Foxo1 controls gut homeostasis and commensalism by regulating mucus secretion. J Exp Med. 2021 09 06; 218(9). View Abstract

  57. CD16+CD163+ monocytes traffic to sites of inflammation during necrotizing enterocolitis in premature infants. J Exp Med. 2021 09 06; 218(9). View Abstract

  58. Therapeutic options for CTLA-4 insufficiency. J Allergy Clin Immunol. 2022 02; 149(2):736-746. View Abstract

  59. Small intestinal immunopathology and GI-associated antibody formation in hereditary alpha-tryptasemia. J Allergy Clin Immunol. 2021 09; 148(3):813-821.e7. View Abstract

  60. Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice. Nat Genet. 2021 04; 53(4):500-510. View Abstract

  61. Constitutive activation of WASp leads to abnormal cytotoxic cells with increased granzyme B and degranulation response to target cells. JCI Insight. 2021 03 22; 6(6). View Abstract

  62. A Systematic Review of Monogenic Inflammatory Bowel Disease. Clin Gastroenterol Hepatol. 2022 04; 20(4):e653-e663. View Abstract

  63. Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease. Sci Rep. 2021 03 15; 11(1):5945. View Abstract

  64. Clinical Genomics for the Diagnosis of Monogenic Forms of Inflammatory Bowel Disease: A Position Paper From the Paediatric IBD Porto Group of European Society of Paediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol Nutr. 2021 03 01; 72(3):456-473. View Abstract

  65. Natural History of? Very Early Onset Inflammatory Bowel Disease in North America: A Retrospective Cohort Study. Inflamm Bowel Dis. 2021 02 16; 27(3):295-302. View Abstract

  66. Predictive Prenatal Diagnosis for Infantile-onset Inflammatory Bowel Disease Because of Interleukin-10 Signalling Defects. J Pediatr Gastroenterol Nutr. 2021 02 01; 72(2):276-281. View Abstract

  67. Common and Rare Variant Prediction and Penetrance of IBD in a Large, Multi-ethnic, Health System-based Biobank Cohort. Gastroenterology. 2021 04; 160(5):1546-1557. View Abstract

  68. In utero human intestine harbors unique metabolome, including bacterial metabolites. JCI Insight. 2020 11 05; 5(21). View Abstract

  69. The E3 ubiquitin ligase UBR5 interacts with TTC7A and may be associated with very early onset inflammatory bowel disease. Sci Rep. 2020 10 29; 10(1):18648. View Abstract

  70. Monogenic Inflammatory Bowel Disease: It's Never Too Late to Make a Diagnosis. Front Immunol. 2020; 11:1775. View Abstract

  71. Mucosal Inflammatory and Wound Healing Gene Programs Reveal Targets for Stricturing Behavior in Pediatric Crohn's Disease. J Crohns Colitis. 2020 Aug 08. View Abstract

  72. An RTEL1 Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency. J Clin Immunol. 2020 10; 40(7):1010-1019. View Abstract

  73. NOX1 Regulates Collective and Planktonic Cell Migration: Insights From Patients With Pediatric-Onset IBD and NOX1 Deficiency. Inflamm Bowel Dis. 2020 07 17; 26(8):1166-1176. View Abstract

  74. Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med. 2020; 5:29. View Abstract

  75. Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med. 2020 Jul 06; 5(1):29. View Abstract

  76. Single-Cell Analyses of Colon and Blood Reveal Distinct Immune Cell Signatures of Ulcerative Colitis and Crohn's Disease. Gastroenterology. 2020 08; 159(2):591-608.e10. View Abstract

  77. Very Early Onset Inflammatory Bowel Disease: A Clinical Approach With a Focus on the Role of Genetics and Underlying Immune Deficiencies. Inflamm Bowel Dis. 2020 05 12; 26(6):820-842. View Abstract

  78. SARS-CoV-2 Receptor ACE2 Is an Interferon-Stimulated Gene in Human Airway Epithelial Cells and Is Detected in Specific Cell Subsets across Tissues. Cell. 2020 05 28; 181(5):1016-1035.e19. View Abstract

  79. 16S rRNA sequencing analysis: the devil is in the details. Gut Microbes. 2020 09 02; 11(5):1139-1142. View Abstract

  80. North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition Position Paper on the Evaluation and Management for Patients With Very Early-onset Inflammatory Bowel Disease. J Pediatr Gastroenterol Nutr. 2020 03; 70(3):389-403. View Abstract

  81. Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease. Nat Commun. 2020 02 21; 11(1):995. View Abstract

  82. Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified by Whole-Exome Sequencing in 1000 Children at a Single Center. Gastroenterology. 2020 06; 158(8):2208-2220. View Abstract

  83. Alterations in T and B Cell Receptor Repertoires Patterns in Patients With IL10 Signaling Defects and History of Infantile-Onset IBD. Front Immunol. 2020; 11:109. View Abstract

  84. NASPGHAN Position Paper on The Evaluation and Management for Patients with Very Early-Onset Inflammatory Bowel Disease (VEO-IBD). J Pediatr Gastroenterol Nutr. 2019 Dec 30. View Abstract

  85. A quantitative single-cell assay for retrograde membrane traffic enables rapid detection of defects in cellular organization. Mol Biol Cell. 2020 03 19; 31(7):511-519. View Abstract

  86. Drug Screen Identifies Leflunomide for Treatment of Inflammatory Bowel Disease Caused by TTC7A Deficiency. Gastroenterology. 2020 03; 158(4):1000-1015. View Abstract

  87. Treatment-Specific Composition of the Gut Microbiota Is Associated With Disease Remission in a Pediatric Crohn's Disease Cohort. Inflamm Bowel Dis. 2019 11 14; 25(12):1927-1938. View Abstract

  88. CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease. Inflamm Bowel Dis. 2019 10 18; 25(11):1788-1795. View Abstract

  89. Humanized mouse models of genetic immune disorders and hematological malignancies. Biochem Pharmacol. 2020 04; 174:113671. View Abstract

  90. Risk-factors Associated With Poor Outcomes in VEO-IBD Secondary to XIAP Deficiency: A Case Report and Literature Review. J Pediatr Gastroenterol Nutr. 2019 07; 69(1):e13-e18. View Abstract

  91. Variation in Care in the Management of Children With Crohn's Disease: Data From a Multicenter Inception Cohort Study. Inflamm Bowel Dis. 2019 06 18; 25(7):1208-1217. View Abstract

  92. Immunologic Alterations Associated With Oral Delivery of Anti-CD3 (OKT3) Monoclonal Antibodies in Patients With Moderate-to-Severe Ulcerative Colitis. Crohns Colitis 360. 2019 Jul; 1(2):otz009. View Abstract

  93. Aerodigestive sampling reveals altered microbial exchange between lung, oropharyngeal, and gastric microbiomes in children with impaired swallow function. PLoS One. 2019; 14(5):e0216453. View Abstract

  94. Challenges in IBD Research: Preclinical Human IBD Mechanisms. Inflamm Bowel Dis. 2019 05 16; 25(Suppl 2):S5-S12. View Abstract

  95. A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant. J Clin Immunol. 2019 05; 39(4):430-439. View Abstract

  96. Low-Dose Interleukin-2 Ameliorates Colitis in a Preclinical Humanized Mouse Model. Cell Mol Gastroenterol Hepatol. 2019; 8(2):193-195. View Abstract

  97. Intracellular MLCK1 diversion reverses barrier loss to restore mucosal homeostasis. Nat Med. 2019 04; 25(4):690-700. View Abstract

  98. The Pediatric Cell Atlas: Defining the Growth Phase of Human Development at Single-Cell Resolution. Dev Cell. 2019 04 08; 49(1):10-29. View Abstract

  99. STAT1 signaling shields T cells from NK cell-mediated cytotoxicity. Nat Commun. 2019 02 22; 10(1):912. View Abstract

  100. Genetic and Transcriptomic Variation Linked to Neutrophil Granulocyte-Macrophage Colony-Stimulating Factor Signaling in Pediatric Crohn's Disease. Inflamm Bowel Dis. 2019 02 21; 25(3):547-560. View Abstract

  101. Risk-factors Associated with Poor Outcomes in VEO-IBD Secondary to XIAP Deficiency: A Case Report and Literature Review. J Pediatr Gastroenterol Nutr. 2019 Feb 07. View Abstract

  102. Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases. Proc Natl Acad Sci U S A. 2019 01 15; 116(3):970-975. View Abstract

  103. Age-of-diagnosis dependent ileal immune intensification and reduced alpha-defensin in older versus younger pediatric Crohn Disease patients despite already established dysbiosis. Mucosal Immunol. 2019 03; 12(2):491-502. View Abstract

  104. Mucosal Gene Expression in Pediatric and Adult Patients With Ulcerative Colitis Permits Modeling of Ideal Biopsy Collection Strategy for Transcriptomic Analysis. Inflamm Bowel Dis. 2018 11 29; 24(12):2565-2578. View Abstract

  105. The Effect of Early-Life Environmental Exposures on Disease Phenotype and Clinical Course of Crohn's Disease in Children. Am J Gastroenterol. 2018 10; 113(10):1524-1529. View Abstract

  106. Intestinal Inflammation and Dysregulated Immunity in Patients With Inherited Caspase-8 Deficiency. Gastroenterology. 2019 01; 156(1):275-278. View Abstract

  107. Alpha kinase 1 controls intestinal inflammation by suppressing the IL-12/Th1 axis. Nat Commun. 2018 09 18; 9(1):3797. View Abstract

  108. Evolution of Pediatric Inflammatory Bowel Disease Unclassified (IBD-U): Incorporated With Serological and Gene Expression Profiles. Inflamm Bowel Dis. 2018 09 15; 24(10):2285-2290. View Abstract

  109. Increased Risk for Malignancies in 131 Affected CTLA4 Mutation Carriers. Front Immunol. 2018; 9:2012. View Abstract

  110. Constitutive activation of WASp in X-linked neutropenia renders neutrophils hyperactive. J Clin Invest. 2018 08 31; 128(9):4115-4131. View Abstract

  111. High-dimensional immune phenotyping and transcriptional analyses reveal robust recovery of viable human immune and epithelial cells from frozen gastrointestinal tissue. Mucosal Immunol. 2018 11; 11(6):1684-1693. View Abstract

  112. An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery. NPJ Genom Med. 2018; 3:21. View Abstract

  113. Molecular Comparison of Adult and Pediatric Ulcerative Colitis Indicates Broad Similarity of Molecular Pathways in Disease Tissue. J Pediatr Gastroenterol Nutr. 2018 07; 67(1):45-52. View Abstract

  114. The Treatment of Inflammatory Bowel Disease in Patients with Selected Primary Immunodeficiencies. J Clin Immunol. 2018 07; 38(5):579-588. View Abstract

  115. Loss of N-WASP drives early progression in an Apc model of intestinal tumourigenesis. J Pathol. 2018 07; 245(3):337-348. View Abstract

  116. The Impact of Combination Therapy on Infliximab Levels and Antibodies in Children and Young Adults With Inflammatory Bowel Disease. Inflamm Bowel Dis. 2018 05 18; 24(6):1344-1351. View Abstract

  117. Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects. J Allergy Clin Immunol. 2018 12; 142(6):1932-1946. View Abstract

  118. WASP-mediated regulation of anti-inflammatory macrophages is IL-10 dependent and is critical for intestinal homeostasis. Nat Commun. 2018 05 03; 9(1):1779. View Abstract

  119. Genetic variants and pathways implicated in a pediatric inflammatory bowel disease cohort. Genes Immun. 2019 02; 20(2):131-142. View Abstract

  120. A probabilistic pathway score (PROPS) for classification with applications to inflammatory bowel disease. Bioinformatics. 2018 03 15; 34(6):985-993. View Abstract

  121. Human TGF-ß1 deficiency causes severe inflammatory bowel disease and encephalopathy. Nat Genet. 2018 03; 50(3):344-348. View Abstract

  122. Genetic and Structural Analysis of a SKIV2L Mutation Causing Tricho-hepato-enteric Syndrome. Dig Dis Sci. 2018 05; 63(5):1192-1199. View Abstract

  123. Clinical and Genomic Correlates of Neutrophil Reactive Oxygen Species Production in Pediatric Patients With Crohn's Disease. Gastroenterology. 2018 06; 154(8):2097-2110. View Abstract

  124. Long ncRNA Landscape in the Ileum of Treatment-Naive Early-Onset Crohn Disease. Inflamm Bowel Dis. 2018 01 18; 24(2):346-360. View Abstract

  125. An algorithm for the classification of mRNA patterns in eosinophilic esophagitis: Integration of machine learning. J Allergy Clin Immunol. 2018 04; 141(4):1354-1364.e9. View Abstract

  126. Attaching-and-Effacing Pathogens Exploit Junction Regulatory Activities of N-WASP and SNX9 to Disrupt the Intestinal Barrier. Cell Mol Gastroenterol Hepatol. 2018 Mar; 5(3):273-288. View Abstract

  127. Enhanced TH17 Responses in Patients with IL10 Receptor Deficiency and Infantile-onset IBD. Inflamm Bowel Dis. 2017 11; 23(11):1950-1961. View Abstract

  128. Nuclear Wiskott-Aldrich syndrome protein co-regulates T cell factor 1-mediated transcription in T cells. Genome Med. 2017 10 27; 9(1):91. View Abstract

  129. Spontaneous food allergy in Was-/- mice occurs independent of FceRI-mediated mast cell activation. Allergy. 2017 Dec; 72(12):1916-1924. View Abstract

  130. Macrophage dysfunction initiates colitis during weaning of infant mice lacking the interleukin-10 receptor. Elife. 2017 07 05; 6. View Abstract

  131. CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis. N Engl J Med. 2017 07 06; 377(1):52-61. View Abstract

  132. ADAMTS13 Deficiency Worsens Colitis and Exogenous ADAMTS13 Administration Decreases Colitis Severity in Mice. TH Open. 2017 Jun; 1(1):e11-e23. View Abstract

  133. Haematopoietic stem and progenitor cells from human pluripotent stem cells. Nature. 2017 05 25; 545(7655):432-438. View Abstract

  134. Anti-inflammatory effect of IL-10 mediated by metabolic reprogramming of macrophages. Science. 2017 05 05; 356(6337):513-519. View Abstract

  135. Prediction of complicated disease course for children newly diagnosed with Crohn's disease: a multicentre inception cohort study. Lancet. 2017 04 29; 389(10080):1710-1718. View Abstract

  136. Inhibition of Inflammatory Gene Transcription by IL-10 Is Associated with Rapid Suppression of Lipopolysaccharide-Induced Enhancer Activation. J Immunol. 2017 04 01; 198(7):2906-2915. View Abstract

  137. O-003 The Brain as Extraintestinal IBD Manifestation: Are Brain and Cognitive Differences in Pediatric Crohn's Disease Associated with Immune Gene Expression? Inflamm Bowel Dis. 2017 Feb; 23 Suppl 1:S1-S2. View Abstract

  138. O-011 Low-dose IL-2 Administration Expands Human Regulatory T Cells in Patients with UC and Humanized Mice and Protects Against Experimental Colitis. Inflamm Bowel Dis. 2017 Feb; 23 Suppl 1:S4. View Abstract

  139. Erratum to: Increased Mucosal IL-22 Production of an IL-10RA Mutation Patient Following Anakinra Treatment Suggests Further Mechanism for Mucosal Healing. J Clin Immunol. 2017 02; 37(2):108. View Abstract

  140. P356 Treatment with anakinra induces T cell production of IL22 and GI mucosal healing in an IL-10RA mutation patient. J Crohns Colitis. 2017 Feb 01; 11(suppl_1):S258. View Abstract

  141. DOP082 Enhanced TH17 responses in patients with IL10 receptor deficiency and history of infantile-onset IBD. J Crohns Colitis. 2017 Feb 01; 11(suppl_1):S75. View Abstract

  142. Ultrasound-Mediated Delivery of RNA to Colonic Mucosa of Live Mice. Gastroenterology. 2017 04; 152(5):1151-1160. View Abstract

  143. Increased Mucosal IL-22 Production of an IL-10RA Mutation Patient Following Anakin Treatment Suggests Further Mechanism for Mucosal Healing. J Clin Immunol. 2017 02; 37(2):104-107. View Abstract

  144. IL-10 induces a STAT3-dependent autoregulatory loop in TH2 cells that promotes Blimp-1 restriction of cell expansion via antagonism of STAT5 target genes. Sci Immunol. 2016 Oct; 1(5). View Abstract

  145. AHR Activation Is Protective against Colitis Driven by T Cells in Humanized Mice. Cell Rep. 2016 10 25; 17(5):1318-1329. View Abstract

  146. CellMapper: rapid and accurate inference of gene expression in difficult-to-isolate cell types. Genome Biol. 2016 09 29; 17(1):201. View Abstract

  147. Interleukin 1ß Mediates Intestinal Inflammation in Mice and Patients With Interleukin 10 Receptor Deficiency. Gastroenterology. 2016 12; 151(6):1100-1104. View Abstract

  148. FOXP3+ Tregs require WASP to restrain Th2-mediated food allergy. J Clin Invest. 2016 10 03; 126(10):4030-4044. View Abstract

  149. Deletion of Wiskott-Aldrich syndrome protein triggers Rac2 activity and increased cross-presentation by dendritic cells. Nat Commun. 2016 07 18; 7:12175. View Abstract

  150. Oocyte-specific deletion of N-WASP does not affect oocyte polarity, but causes failure of meiosis II completion. Mol Hum Reprod. 2016 09; 22(9):613-21. View Abstract

  151. Large B-Cell Lymphoma in an Adolescent Patient With Interleukin-10 Receptor Deficiency and History of Infantile Inflammatory Bowel Disease. J Pediatr Gastroenterol Nutr. 2016 07; 63(1):e15-7. View Abstract

  152. Neuronal Wiskott-Aldrich syndrome protein regulates TGF-ß1-mediated lung vascular permeability. FASEB J. 2016 07; 30(7):2557-69. View Abstract

  153. O-005 YI Microbiota Drives Inflammation by Altering Intestinal Lamina Propria Macrophage Phenotype in a Novel IL10R-Deficient Model of Very Early Onset IBD. Inflamm Bowel Dis. 2016 Mar; 22 Suppl 1:S2-3. View Abstract

  154. O-008 Aberrant Anti-inflammatory Macrophage Function and Differentiation in Wiskott-Aldrich Syndrome Protein-Deficient Mice and Humans. Inflamm Bowel Dis. 2016 Mar; 22 Suppl 1:S3. View Abstract

  155. O-009 Lymphotoxin Links Microbiota and Group 3 Innate Lymphoid Cells to Protect Against Intestinal Inflammation. Inflamm Bowel Dis. 2016 Mar; 22 Suppl 1:S3-4. View Abstract

  156. O-018 New Evidence for Structural Brain Differences in Pediatric Crohn's Disease: Impact of Underlying Disease Factors. Inflamm Bowel Dis. 2016 Mar; 22 Suppl 1:S6-7. View Abstract

  157. Variants in TRIM22 That Affect NOD2 Signaling Are Associated With Very-Early-Onset Inflammatory Bowel Disease. Gastroenterology. 2016 05; 150(5):1196-1207. View Abstract

  158. Novel exonic mutation inducing aberrant splicing in the IL10RA gene and resulting in infantile-onset inflammatory bowel disease: a case report. BMC Gastroenterol. 2016 Jan 28; 16:10. View Abstract

  159. N-WASP is required for B-cell-mediated autoimmunity in Wiskott-Aldrich syndrome. Blood. 2016 Jan 14; 127(2):216-20. View Abstract

  160. Defects in NADPH Oxidase Genes NOX1 and DUOX2 in Very Early Onset Inflammatory Bowel Disease. Cell Mol Gastroenterol Hepatol. 2015 Sep 01; 1(5):489-502. View Abstract

  161. MUCOSAL IMMUNOLOGY. Individual intestinal symbionts induce a distinct population of ROR?? regulatory T cells. Science. 2015 Aug 28; 349(6251):993-7. View Abstract

  162. Very-Early-Onset Inflammatory Bowel Disease. Gastroenterol Hepatol (N Y). 2015 Aug; 11(8):554-6. View Abstract

  163. Deletion of WASp and N-WASp in B cells cripples the germinal center response and results in production of IgM autoantibodies. J Autoimmun. 2015 Aug; 62:81-92. View Abstract

  164. Very early-onset inflammatory bowel disease: gaining insight through focused discovery. Inflamm Bowel Dis. 2015 May; 21(5):1166-75. View Abstract

  165. Fatal autoimmunity in mice reconstituted with human hematopoietic stem cells encoding defective FOXP3. Blood. 2015 Jun 18; 125(25):3886-95. View Abstract

  166. The diagnostic approach to monogenic very early onset inflammatory bowel disease. Gastroenterology. 2014 Nov; 147(5):990-1007.e3. View Abstract

  167. CCL25/CCR9 interactions are not essential for colitis development but are required for innate immune cell protection from chronic experimental murine colitis. Inflamm Bowel Dis. 2014 Jul; 20(7):1165-76. View Abstract

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