Scott B. Snapper

Publications

1. 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
2. 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
3. Human ITGAV variants are associated with immune dysregulation, brain abnormalities, and colitis. J Exp Med. 2024 Dec 02; 221(12). View Abstract
4. Type III interferons induce pyroptosis in gut epithelial cells and impair mucosal repair. Cell. 2024 Dec 26; 187(26):7533-7550.e23. View Abstract
5. Spatiotemporal coordination of actin regulators generates invasive protrusions in cell-cell fusion. Nat Cell Biol. 2024 Nov; 26(11):1860-1877. View Abstract
6. 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
7. Branched actin polymerization drives invasive protrusion formation to promote myoblast fusion during skeletal muscle regeneration. bioRxiv. 2024 Oct 08. View Abstract
8. Efficacy and Safety of Anti-Tumor Necrosis Factor Alpha in Very Early Onset Inflammatory Bowel Disease. Inflamm Bowel Dis. 2024 Sep 03; 30(9):1443-1453. View Abstract
9. Breaking Down Barriers: Epithelial Contributors to Monogenic IBD Pathogenesis. Inflamm Bowel Dis. 2024 Jul 03; 30(7):1189-1206. View Abstract
10. Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort. medRxiv. 2024 May 23. View Abstract
11. 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
12. Bacterial Sphingolipids Exacerbate Colitis by Inhibiting ILC3-derived IL-22 Production. Cell Mol Gastroenterol Hepatol. 2024; 18(2):101350. View Abstract
13. 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 Mar 01; 30(3):513-514. View Abstract
14. Catalyzing change: Implementing standardised reporting in monogenic inflammatory bowel disease research. J Pediatr Gastroenterol Nutr. 2024 Apr; 78(4):759-762. View Abstract
15. Anti-infliximab antibodies and low infliximab levels correlate with drug discontinuation in pediatric inflammatory bowel disease. J Pediatr Gastroenterol Nutr. 2024 Feb; 78(2):261-271. View Abstract
16. Outcomes of hematopoietic stem cell gene therapy for Wiskott-Aldrich syndrome. Blood. 2023 10 12; 142(15):1281-1296. View Abstract
17. 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
18. Precision medicine in monogenic inflammatory bowel disease: proposed mIBD REPORT standards. Nat Rev Gastroenterol Hepatol. 2023 Dec; 20(12):810-828. View Abstract
19. Intestinal microbiome and metabolome signatures in patients with chronic granulomatous disease. J Allergy Clin Immunol. 2023 12; 152(6):1619-1633.e11. View Abstract
20. 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
21. Editorial: Inborn errors of immunity and mucosal immunity. Front Immunol. 2023; 14:1208798. View Abstract
22. 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
23. Low-Dose Interleukin 2 for the Treatment of Moderate to Severe Ulcerative Colitis. Gastroenterology. 2023 08; 165(2):492-495.e2. View Abstract
24. 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
25. Vertebral Compression Fractures in Very Early Onset Inflammatory Bowel Disease. JPGN Rep. 2023 Feb; 4(1):e283. View Abstract
26. Human MD2 deficiency-an inborn error of immunity with pleiotropic features. J Allergy Clin Immunol. 2023 03; 151(3):791-796.e7. View Abstract
27. RIPK1 mutations causing infantile-onset IBD with inflammatory and fistulizing features. Front Immunol. 2022; 13:1041315. View Abstract
28. 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
29. Identification of environmental factors that promote intestinal inflammation. Nature. 2022 11; 611(7937):801-809. View Abstract
30. 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
31. Inflammatory Bowel Disease and Cardiovascular Diseases. Am J Med. 2022 12; 135(12):1453-1460. View Abstract
32. Cytotoxic T Lymphocyte Antigen 4 Haploinsufficiency Presenting As Refractory Celiac-Like Disease: Case Report. Front Immunol. 2022; 13:894648. View Abstract
33. 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
34. Bone marrow adiposity in pediatric Crohn's disease. Bone. 2022 09; 162:116453. View Abstract
35. Targeted RNAseq Improves Clinical Diagnosis of Very Early-Onset Pediatric Immune Dysregulation. J Pers Med. 2022 Jun 01; 12(6). View Abstract
36. 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
37. Mucus sialylation determines intestinal host-commensal homeostasis. Cell. 2022 03 31; 185(7):1172-1188.e28. View Abstract
38. Valosin-containing protein-regulated endoplasmic reticulum stress causes NOD2-dependent inflammatory responses. Sci Rep. 2022 03 10; 12(1):3906. View Abstract
39. 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
40. 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
41. 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
42. CCR2 promotes monocyte recruitment and intestinal inflammation in mice lacking the interleukin-10 receptor. Sci Rep. 2022 01 10; 12(1):452. View Abstract
43. 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
44. Constitutive activation of WASp in X-linked neutropenia renders neutrophils hyperactive. J Clin Invest. 2021 12 01; 131(23). View Abstract
45. An Integrated Taxonomy for Monogenic Inflammatory Bowel Disease. Gastroenterology. 2022 03; 162(3):859-876. View Abstract
46. 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
47. Utilizing a reductionist model to study host-microbe interactions in intestinal inflammation. Microbiome. 2021 11 03; 9(1):215. View Abstract
48. 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
49. 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
50. 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
51. Live cell tagging tracking and isolation for spatial transcriptomics using photoactivatable cell dyes. Nat Commun. 2021 08 17; 12(1):4995. View Abstract
52. Foxo1 controls gut homeostasis and commensalism by regulating mucus secretion. J Exp Med. 2021 09 06; 218(9). View Abstract
53. CD16+CD163+ monocytes traffic to sites of inflammation during necrotizing enterocolitis in premature infants. J Exp Med. 2021 09 06; 218(9). View Abstract
54. Therapeutic options for CTLA-4 insufficiency. J Allergy Clin Immunol. 2022 02; 149(2):736-746. View Abstract
55. 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
56. 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
57. 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
58. A Systematic Review of Monogenic Inflammatory Bowel Disease. Clin Gastroenterol Hepatol. 2022 04; 20(4):e653-e663. View Abstract
59. Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease. Sci Rep. 2021 03 15; 11(1):5945. View Abstract
60. 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
61. 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
62. 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
63. 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
64. In utero human intestine harbors unique metabolome, including bacterial metabolites. JCI Insight. 2020 11 05; 5(21). View Abstract
65. 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
66. Monogenic Inflammatory Bowel Disease: It's Never Too Late to Make a Diagnosis. Front Immunol. 2020; 11:1775. View Abstract
67. 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
68. An RTEL1 Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency. J Clin Immunol. 2020 10; 40(7):1010-1019. View Abstract
69. 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
70. Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med. 2020; 5:29. View Abstract
71. Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med. 2020 Jul 06; 5(1):29. View Abstract
72. 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
73. 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
74. 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
75. 16S rRNA sequencing analysis: the devil is in the details. Gut Microbes. 2020 09 02; 11(5):1139-1142. View Abstract
76. 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
77. 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
78. 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
79. 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
80. 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
81. 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
82. Drug Screen Identifies Leflunomide for Treatment of Inflammatory Bowel Disease Caused by TTC7A Deficiency. Gastroenterology. 2020 03; 158(4):1000-1015. View Abstract
83. 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
84. CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease. Inflamm Bowel Dis. 2019 10 18; 25(11):1788-1795. View Abstract
85. Humanized mouse models of genetic immune disorders and hematological malignancies. Biochem Pharmacol. 2020 04; 174:113671. View Abstract
86. 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
87. 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
88. 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
89. 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
90. Challenges in IBD Research: Preclinical Human IBD Mechanisms. Inflamm Bowel Dis. 2019 05 16; 25(Suppl 2):S5-S12. View Abstract
91. 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
92. Low-Dose Interleukin-2 Ameliorates Colitis in a Preclinical Humanized Mouse Model. Cell Mol Gastroenterol Hepatol. 2019; 8(2):193-195. View Abstract
93. Intracellular MLCK1 diversion reverses barrier loss to restore mucosal homeostasis. Nat Med. 2019 04; 25(4):690-700. View Abstract
94. 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
95. STAT1 signaling shields T cells from NK cell-mediated cytotoxicity. Nat Commun. 2019 02 22; 10(1):912. View Abstract
96. 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
97. 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
98. 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
99. 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
100. 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
101. 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
102. Intestinal Inflammation and Dysregulated Immunity in Patients With Inherited Caspase-8 Deficiency. Gastroenterology. 2019 01; 156(1):275-278. View Abstract
103. Alpha kinase 1 controls intestinal inflammation by suppressing the IL-12/Th1 axis. Nat Commun. 2018 09 18; 9(1):3797. View Abstract
104. 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
105. Increased Risk for Malignancies in 131 Affected CTLA4 Mutation Carriers. Front Immunol. 2018; 9:2012. View Abstract
106. Constitutive activation of WASp in X-linked neutropenia renders neutrophils hyperactive. J Clin Invest. 2018 08 31; 128(9):4115-4131. View Abstract
107. 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
108. An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery. NPJ Genom Med. 2018; 3:21. View Abstract
109. 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
110. The Treatment of Inflammatory Bowel Disease in Patients with Selected Primary Immunodeficiencies. J Clin Immunol. 2018 07; 38(5):579-588. View Abstract
111. Loss of N-WASP drives early progression in an Apc model of intestinal tumourigenesis. J Pathol. 2018 07; 245(3):337-348. View Abstract
112. 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
113. 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
114. 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
115. Genetic variants and pathways implicated in a pediatric inflammatory bowel disease cohort. Genes Immun. 2019 02; 20(2):131-142. View Abstract
116. A probabilistic pathway score (PROPS) for classification with applications to inflammatory bowel disease. Bioinformatics. 2018 03 15; 34(6):985-993. View Abstract
117. Human TGF-ß1 deficiency causes severe inflammatory bowel disease and encephalopathy. Nat Genet. 2018 03; 50(3):344-348. View Abstract
118. Genetic and Structural Analysis of a SKIV2L Mutation Causing Tricho-hepato-enteric Syndrome. Dig Dis Sci. 2018 05; 63(5):1192-1199. View Abstract
119. 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
120. 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
121. 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
122. 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
123. Enhanced TH17 Responses in Patients with IL10 Receptor Deficiency and Infantile-onset IBD. Inflamm Bowel Dis. 2017 11; 23(11):1950-1961. View Abstract
124. 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
125. Spontaneous food allergy in Was-/- mice occurs independent of FceRI-mediated mast cell activation. Allergy. 2017 Dec; 72(12):1916-1924. View Abstract
126. Macrophage dysfunction initiates colitis during weaning of infant mice lacking the interleukin-10 receptor. Elife. 2017 07 05; 6. View Abstract
127. CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis. N Engl J Med. 2017 07 06; 377(1):52-61. View Abstract
128. ADAMTS13 Deficiency Worsens Colitis and Exogenous ADAMTS13 Administration Decreases Colitis Severity in Mice. TH Open. 2017 Jun; 1(1):e11-e23. View Abstract
129. Haematopoietic stem and progenitor cells from human pluripotent stem cells. Nature. 2017 05 25; 545(7655):432-438. View Abstract
130. Anti-inflammatory effect of IL-10 mediated by metabolic reprogramming of macrophages. Science. 2017 05 05; 356(6337):513-519. View Abstract
131. 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
132. 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
133. 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
134. 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
135. 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
136. 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
137. 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
138. Ultrasound-Mediated Delivery of RNA to Colonic Mucosa of Live Mice. Gastroenterology. 2017 04; 152(5):1151-1160. View Abstract
139. 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
140. 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
141. AHR Activation Is Protective against Colitis Driven by T Cells in Humanized Mice. Cell Rep. 2016 10 25; 17(5):1318-1329. View Abstract
142. CellMapper: rapid and accurate inference of gene expression in difficult-to-isolate cell types. Genome Biol. 2016 09 29; 17(1):201. View Abstract
143. Interleukin 1ß Mediates Intestinal Inflammation in Mice and Patients With Interleukin 10 Receptor Deficiency. Gastroenterology. 2016 12; 151(6):1100-1104. View Abstract
144. FOXP3+ Tregs require WASP to restrain Th2-mediated food allergy. J Clin Invest. 2016 10 03; 126(10):4030-4044. View Abstract
145. 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
146. 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
147. 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
148. Neuronal Wiskott-Aldrich syndrome protein regulates TGF-ß1-mediated lung vascular permeability. FASEB J. 2016 07; 30(7):2557-69. View Abstract
149. 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
150. 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
151. 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
152. 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
153. 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
154. 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
155. N-WASP is required for B-cell-mediated autoimmunity in Wiskott-Aldrich syndrome. Blood. 2016 Jan 14; 127(2):216-20. View Abstract
156. 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
157. MUCOSAL IMMUNOLOGY. Individual intestinal symbionts induce a distinct population of ROR?? regulatory T cells. Science. 2015 Aug 28; 349(6251):993-7. View Abstract
158. Very-Early-Onset Inflammatory Bowel Disease. Gastroenterol Hepatol (N Y). 2015 Aug; 11(8):554-6. View Abstract
159. 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
160. Very early-onset inflammatory bowel disease: gaining insight through focused discovery. Inflamm Bowel Dis. 2015 May; 21(5):1166-75. View Abstract
161. Fatal autoimmunity in mice reconstituted with human hematopoietic stem cells encoding defective FOXP3. Blood. 2015 Jun 18; 125(25):3886-95. View Abstract
162. The diagnostic approach to monogenic very early onset inflammatory bowel disease. Gastroenterology. 2014 Nov; 147(5):990-1007.e3. View Abstract
163. 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
164. N-wasp is required for structural integrity of the blood-testis barrier. PLoS Genet. 2014 Jun; 10(6):e1004447. View Abstract
165. Incidence, outcomes, and health services burden of very early onset inflammatory bowel disease. Gastroenterology. 2014 Oct; 147(4):803-813.e7; quiz e14-5. View Abstract
166. Variants in nicotinamide adenine dinucleotide phosphate oxidase complex components determine susceptibility to very early onset inflammatory bowel disease. Gastroenterology. 2014 Sep; 147(3):680-689.e2. View Abstract
167. The ability of an attaching and effacing pathogen to trigger localized actin assembly contributes to virulence by promoting mucosal attachment. Cell Microbiol. 2014 Sep; 16(9):1405-24. View Abstract
168. Interleukin-10 receptor signaling in innate immune cells regulates mucosal immune tolerance and anti-inflammatory macrophage function. Immunity. 2014 May 15; 40(5):706-19. View Abstract
169. Protective mucosal immunity mediated by epithelial CD1d and IL-10. Nature. 2014 May 22; 509(7501):497-502. View Abstract
170. Very early onset inflammatory bowel disease associated with aberrant trafficking of IL-10R1 and cure by T cell replete haploidentical bone marrow transplantation. J Clin Immunol. 2014 Apr; 34(3):331-9. View Abstract
171. Higher activity of the inducible nitric oxide synthase contributes to very early onset inflammatory bowel disease. Clin Transl Gastroenterol. 2014 Jan 16; 5:e46. View Abstract
172. Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease. Gastroenterology. 2014 Apr; 146(4):1028-39. View Abstract
173. Interleukin 10 receptor signaling: master regulator of intestinal mucosal homeostasis in mice and humans. Adv Immunol. 2014; 122:177-210. View Abstract
174. N-wasp is essential for the negative regulation of B cell receptor signaling. PLoS Biol. 2013 Nov; 11(11):e1001704. View Abstract
175. Colitis and colon cancer in WASP-deficient mice require helicobacter species. Inflamm Bowel Dis. 2013 Sep; 19(10):2041-50. View Abstract
176. Elevated levels of leukotriene C4 synthase mRNA distinguish a subpopulation of eosinophilic oesophagitis patients. Clin Exp Allergy. 2013 Aug; 43(8):902-13. View Abstract
177. Characterization of adherent bacteroidales from intestinal biopsies of children and young adults with inflammatory bowel disease. PLoS One. 2013; 8(6):e63686. View Abstract
178. N-wasp is required for stabilization of podocyte foot processes. J Am Soc Nephrol. 2013 Apr; 24(5):713-21. View Abstract
179. IL-10R polymorphisms are associated with very-early-onset ulcerative colitis. Inflamm Bowel Dis. 2013 Jan; 19(1):115-23. View Abstract
180. Enteropathogenic Escherichia coli and vaccinia virus do not require the family of WASP-interacting proteins for pathogen-induced actin assembly. Infect Immun. 2012 Dec; 80(12):4071-7. View Abstract
181. Cdc42 regulates neutrophil migration via crosstalk between WASp, CD11b, and microtubules. Blood. 2012 Oct 25; 120(17):3563-74. View Abstract
182. The actin regulator N-WASp is required for muscle-cell fusion in mice. Proc Natl Acad Sci U S A. 2012 Jul 10; 109(28):11211-6. View Abstract
183. The age of gene discovery in very early onset inflammatory bowel disease. Gastroenterology. 2012 Aug; 143(2):285-8. View Abstract
184. Wiskott-Aldrich syndrome protein deficiency in innate immune cells leads to mucosal immune dysregulation and colitis in mice. Gastroenterology. 2012 Sep; 143(3):719-729.e2. View Abstract
185. Dysfunction of the intestinal microbiome in inflammatory bowel disease and treatment. Genome Biol. 2012 Apr 16; 13(9):R79. View Abstract
186. Wiskott-Aldrich syndrome protein (WASP) and N-WASP are critical for peripheral B-cell development and function. Blood. 2012 Apr 26; 119(17):3966-74. View Abstract
187. B cell-intrinsic deficiency of the Wiskott-Aldrich syndrome protein (WASp) causes severe abnormalities of the peripheral B-cell compartment in mice. Blood. 2012 Mar 22; 119(12):2819-28. View Abstract
188. Update on biologic pathways in inflammatory bowel disease and their therapeutic relevance. J Gastroenterol. 2012 Jan; 47(1):1-8. View Abstract
189. Gut-tropic T cells that express integrin a4ß7 and CCR9 are required for induction of oral immune tolerance in mice. Gastroenterology. 2011 Dec; 141(6):2109-18. View Abstract
190. Rac1 drives melanoblast organization during mouse development by orchestrating pseudopod- driven motility and cell-cycle progression. Dev Cell. 2011 Oct 18; 21(4):722-34. View Abstract
191. The WASp-based actin polymerization machinery is required in somatic support cells for spermatid maturation and release. Development. 2011 Jul; 138(13):2729-39. View Abstract
192. MyD88-dependent TLR1/2 signals educate dendritic cells with gut-specific imprinting properties. J Immunol. 2011 Jul 01; 187(1):141-50. View Abstract
193. Intestinal alkaline phosphatase has beneficial effects in mouse models of chronic colitis. Inflamm Bowel Dis. 2011 Feb; 17(2):532-42. View Abstract
194. N-WASP is required for membrane wrapping and myelination by Schwann cells. J Cell Biol. 2011 Jan 24; 192(2):243-50. View Abstract
195. Enterohemorrhagic E. coli requires N-WASP for efficient type III translocation but not for EspFU-mediated actin pedestal formation. PLoS Pathog. 2010 Aug 19; 6(8):e1001056. View Abstract
196. Activating WASP mutations associated with X-linked neutropenia result in enhanced actin polymerization, altered cytoskeletal responses, and genomic instability in lymphocytes. J Exp Med. 2010 Jun 07; 207(6):1145-52. View Abstract
197. Neural Wiskott-Aldrich syndrome protein modulates Wnt signaling and is required for hair follicle cycling in mice. J Clin Invest. 2010 Feb; 120(2):446-56. View Abstract
198. Inflammatory bowel disease and mutations affecting the interleukin-10 receptor. N Engl J Med. 2009 Nov 19; 361(21):2033-45. View Abstract
199. Phosphorylation of WASp is a key regulator of activity and stability in vivo. Proc Natl Acad Sci U S A. 2009 Sep 15; 106(37):15738-43. View Abstract
200. Toll-like receptor 4-mediated regulation of spontaneous Helicobacter-dependent colitis in IL-10-deficient mice. Gastroenterology. 2009 Oct; 137(4):1380-90.e1-3. View Abstract
201. Activating mutations of N-WASP alter Shigella pathogenesis. Biochem Biophys Res Commun. 2009 Jul 03; 384(3):284-9. View Abstract
202. Targeting Smads to restore transforming growth factor-beta signaling and regulatory T-cell function in inflammatory bowel disease. Gastroenterology. 2009 Apr; 136(4):1161-4. View Abstract
203. Breakdown of T cell tolerance and autoimmunity in primary immunodeficiency--lessons learned from monogenic disorders in mice and men. Curr Opin Immunol. 2008 Dec; 20(6):646-54. View Abstract
204. Regulatory T cells in inflammatory bowel disease. Curr Opin Gastroenterol. 2008 Nov; 24(6):733-41. View Abstract
205. WASP confers selective advantage for specific hematopoietic cell populations and serves a unique role in marginal zone B-cell homeostasis and function. Blood. 2008 Nov 15; 112(10):4139-47. View Abstract
206. Challenges in IBD research: Assessing progress and rethinking the research agenda. Inflamm Bowel Dis. 2008 May; 14(5):687-708. View Abstract
207. Genetic tracing reveals a stereotyped sensory map in the olfactory cortex. Nature. 2008 Mar 06; 452(7183):120. View Abstract
208. Wiskott Aldrich syndrome protein (WASP) and N-WASP are critical for T cell development. Proc Natl Acad Sci U S A. 2007 Sep 25; 104(39):15424-9. View Abstract
209. Teaching tolerance with a probiotic antigen delivery system. Gastroenterology. 2007 Aug; 133(2):706-9. View Abstract
210. Lymphocyte-dependent and Th2 cytokine-associated colitis in mice deficient in Wiskott-Aldrich syndrome protein. Gastroenterology. 2007 Oct; 133(4):1188-97. View Abstract
211. The Wiskott-Aldrich syndrome protein is required for the function of CD4(+)CD25(+)Foxp3(+) regulatory T cells. J Exp Med. 2007 Feb 19; 204(2):381-91. View Abstract
212. Retroviral WASP gene transfer into human hematopoietic stem cells reconstitutes the actin cytoskeleton in myeloid progeny cells differentiated in vitro. Exp Hematol. 2006 Sep; 34(9):1161-9. View Abstract
213. Targeted deletion of integrin-linked kinase reveals a role in T-cell chemotaxis and survival. Mol Cell Biol. 2005 Dec; 25(24):11145-55. View Abstract
214. A crucial role for macrophages in the pathology of K/B x N serum-induced arthritis. Eur J Immunol. 2005 Oct; 35(10):3064-73. View Abstract
215. Role of the WASP family proteins for Mycobacterium marinum actin tail formation. Proc Natl Acad Sci U S A. 2005 Oct 11; 102(41):14837-42. View Abstract
216. WIP and WASP play complementary roles in T cell homing and chemotaxis to SDF-1alpha. Int Immunol. 2006 Feb; 18(2):221-32. View Abstract
217. WASP deficiency leads to global defects of directed leukocyte migration in vitro and in vivo. J Leukoc Biol. 2005 Jun; 77(6):993-8. View Abstract
218. The NF2 tumor suppressor Merlin and the ERM proteins interact with N-WASP and regulate its actin polymerization function. J Biol Chem. 2005 Apr 01; 280(13):12517-22. View Abstract
219. A polybasic motif allows N-WASP to act as a sensor of PIP(2) density. Mol Cell. 2005 Jan 21; 17(2):181-91. View Abstract
220. Cortactin regulates cell migration through activation of N-WASP. J Cell Sci. 2005 Jan 01; 118(Pt 1):79-87. View Abstract
221. Induced reactivity of intestinal CD4(+) T cells with an epithelial cell lectin, galectin-4, contributes to exacerbation of intestinal inflammation. Immunity. 2004 Jun; 20(6):681-93. View Abstract
222. Shigella interactions with the actin cytoskeleton in the absence of Ena/VASP family proteins. Cell Microbiol. 2004 Apr; 6(4):355-66. View Abstract
223. Inducible clustering of membrane-targeted SH3 domains of the adaptor protein Nck triggers localized actin polymerization. Curr Biol. 2004 Jan 06; 14(1):11-22. View Abstract
224. Innate immune response to encephalomyocarditis virus infection mediated by CD1d. Immunology. 2003 Dec; 110(4):519-26. View Abstract
225. Impaired signaling via the high-affinity IgE receptor in Wiskott-Aldrich syndrome protein-deficient mast cells. Int Immunol. 2003 Dec; 15(12):1431-40. View Abstract
226. A new method for rapidly generating gene-targeting vectors by engineering BACs through homologous recombination in bacteria. Genome Res. 2003 Sep; 13(9):2190-4. View Abstract
227. WAVE2 deficiency reveals distinct roles in embryogenesis and Rac-mediated actin-based motility. EMBO J. 2003 Jul 15; 22(14):3602-12. View Abstract
228. A defect in hematopoietic stem cell migration explains the nonrandom X-chromosome inactivation in carriers of Wiskott-Aldrich syndrome. Blood. 2003 Aug 15; 102(4):1282-9. View Abstract
229. A family of WASPs. N Engl J Med. 2003 Jan 23; 348(4):350-1. View Abstract
230. Gene therapy for Wiskott-Aldrich syndrome: rescue of T-cell signaling and amelioration of colitis upon transplantation of retrovirally transduced hematopoietic stem cells in mice. Blood. 2003 Mar 15; 101(6):2159-66. View Abstract
231. Vav1 controls integrin clustering and MHC/peptide-specific cell adhesion to antigen-presenting cells. Immunity. 2002 Mar; 16(3):331-43. View Abstract
232. Cdc42 facilitates invasion but not the actin-based motility of Shigella. Curr Biol. 2002 Feb 19; 12(4):341-5. View Abstract
233. Genetic tracing reveals a stereotyped sensory map in the olfactory cortex. Nature. 2001 Nov 08; 414(6860):173-9. View Abstract
234. Efficient uptake of Yersinia pseudotuberculosis via integrin receptors involves a Rac1-Arp 2/3 pathway that bypasses N-WASP function. Mol Microbiol. 2001 Nov; 42(3):689-703. View Abstract
235. N-WASP deficiency reveals distinct pathways for cell surface projections and microbial actin-based motility. Nat Cell Biol. 2001 Oct; 3(10):897-904. View Abstract
236. Cdc42, Rac1, and the Wiskott-Aldrich syndrome protein are involved in the cytoskeletal regulation of B lymphocytes. Blood. 2001 Aug 15; 98(4):1086-94. View Abstract
237. Involvement of CD1 in peripheral deletion of T lymphocytes is independent of NK T cells. J Immunol. 2001 Mar 01; 166(5):3090-7. View Abstract
238. Cbl-b is a negative regulator of receptor clustering and raft aggregation in T cells. Immunity. 2000 Oct; 13(4):463-73. View Abstract
239. Activation of natural killer T cells by alpha-galactosylceramide in the presence of CD1d provides protection against colitis in mice. Gastroenterology. 2000 Jul; 119(1):119-28. View Abstract
240. The cytoskeleton in lymphocyte signaling. Adv Immunol. 2000; 75:89-114. View Abstract
241. Heterogeneity of NK1.1+ T cells in the bone marrow: divergence from the thymus. J Immunol. 1999 Nov 15; 163(10):5338-45. View Abstract
242. CD1-reactive natural killer T cells are required for development of systemic tolerance through an immune-privileged site. J Exp Med. 1999 Nov 01; 190(9):1215-26. View Abstract
243. Phosphoinositide 3-kinase knockout mice: role of p85alpha in B cell development and proliferation. Biochem Soc Trans. 1999 Aug; 27(4):624-9. View Abstract
244. Impaired B cell development and proliferation in absence of phosphoinositide 3-kinase p85alpha. Science. 1999 Jan 15; 283(5400):393-7. View Abstract
245. The Wiskott-Aldrich syndrome protein (WASP): roles in signaling and cytoskeletal organization. Annu Rev Immunol. 1999; 17:905-29. View Abstract
246. Wiskott-Aldrich syndrome protein-deficient mice reveal a role for WASP in T but not B cell activation. Immunity. 1998 Jul; 9(1):81-91. View Abstract
247. Ulcerative colitis and colon cancer: more controversy than clarity. Dig Dis. 1998 Mar-Apr; 16(2):81-7. View Abstract
248. Identification of expression signals of the mycobacteriophages Bxb1, L1 and TM4 using the Escherichia-Mycobacterium shuttle plasmids pYUB75 and pYUB76 designed to create translational fusions to the lacZ gene. J Gen Microbiol. 1992 Jan; 138(1):23-30. View Abstract
249. Genetic systems for mycobacteria. Methods Enzymol. 1991; 204:537-55. View Abstract
250. Isolation and characterization of efficient plasmid transformation mutants of Mycobacterium smegmatis. Mol Microbiol. 1990 Nov; 4(11):1911-9. View Abstract
251. Development of BCG as a recombinant vaccine vehicle. Curr Top Microbiol Immunol. 1990; 155:153-60. View Abstract
252. Mycobacteriophage vector systems. Rev Infect Dis. 1989 Mar-Apr; 11 Suppl 2:S404-10. View Abstract
253. Vaccine development. On relating immunology to the Third World: some studies on leprosy. Immunol Suppl. 1989; 2:87-9; discussion 91-2. View Abstract
254. Development of genetic systems for the mycobacteria. Acta Leprol. 1989; 7 Suppl 1:203-7. View Abstract
255. Lysogeny and transformation in mycobacteria: stable expression of foreign genes. Proc Natl Acad Sci U S A. 1988 Sep; 85(18):6987-91. View Abstract
256. Use of anti-idiotypic antibodies to explore genetic mechanisms of production of anti-DNA antibodies. Cell Immunol. 1986 Apr 15; 99(1):44-52. View Abstract
257. The distribution of thyrotropin-releasing hormone (TRH) in the rhesus monkey spinal cord. Peptides. 1984; 5 Suppl 1:185-94. View Abstract
258. Evidence that spinal cord thyrotropin-releasing hormone is independent of the paraventricular nucleus. Neurosci Lett. 1983 Dec 23; 43(1):61-5. View Abstract
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