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About Sickkids
About SickKids

Aleixo Muise, MD, PhD, FRCPC

The Hospital for Sick Children
Staff Gastroenterologist
Gastroenterology, Hepatology and Nutrition

Co-Director
Inflammatory Bowel Disease Centre

Research Institute
Senior Scientist
Cell Biology

University of Toronto
Associate Professor, Biochemistry IMS
Paediatrics


Phone: 416-813-7735
Fax: 416-813-6531
Email: aleixo.muise@sickkids.ca
Alternate Contact: Chona Callejo
Alternate Email: chona.callejo@sickkids.ca

For more information, visit:

Brief Biography

Dr. Aleixo Muise received his B.Sc. from St. Francis Xavier University and then went on to complete a PhD in Biochemistry at Dalhousie University. Muise completed his MD at the University of Toronto and his Paediatric residency at SickKids and a Subspecialty Fellowship in the Division of Gastroenterology, Hepatology and Nutrition. He also completed Postdoctoral training in the laboratory of Dr. Daniela Rotin. 

Research Interests

Genetic and Functional Studies in Very Early Onset Inflammatory Bowel Disease 
Dates: On-going 

I am a Clinician-Scientist in the Cell Biology Program and Co-Director of the Inflammatory Bowel Disease (IBD) Centre. My clinical and research focus centers solely on understanding the pathogenesis of severe forms of intestinal disease in very young children, including inflammatory bowel disease (IBD). Unfortunately, these patients often do not respond to conventional therapies, suffer significant morbidity and are at risk of premature death. Our goal is to revolutionize the treatment of these young children by defining the underlying genetic causes so as to ultimately develop a precision medicine approach to therapy of their severe intestinal and inflammatory diseases. 

To achieve this goal, I have established the first clinic focused exclusively on very young children at SickKids and established the National Early Onset Pediatric IBD Cohort Study (NEOPICS). Collaborating international centers send my lab biological samples from children with intestinal and inflammatory disorders for genetic evaluation. This has led to large-scale funding and industry partnerships that have made my lab at SickKids an international leader in the study of pediatric gastrointestinal disease. Over the past 18 months we have identified the genetic cause for five novel diseases and used state-of-art techniques including animal models (mouse and zebrafish) and human intestinal organoids (mini-guts) to define the molecular defect. Some of these novel diseases have a primary intestinal defect (TTC7A and NHE3) while others have defects in capillaries (PLVAP), the immune system (TRIM22 and TTC7A), platelets and autoimmunity (ARP), and are often multi-systemic. Most importantly our studies have led to SickKids and international patients achieving cures from diseases that hitherto have been lifelong and life shortening.

In my lab we are now routinely using whole exome sequencing for screening young children with severe intestinal diseases for known genetic defects. This has had a major impact on clinical care for a number of patients. For example, we previously identified mutations in the IL10R gene in an infant with fever and an XIAP defect in another infant with severe multi-systemic disease. Our findings led to a curative bone marrow transplant (BMT) in the IL10R patient prior to the development of severe complications and also a curative BMT in the XIAP patient. Similarly we have diagnosed a number of international patients with actionable mutations in IL10R, XIAP, and TTC7A and have carried out the functional studies to prove causality.

Through a unique industry partnership we have completed whole exome sequencing of our entire SickKids IBD Biobank including 1,250 patients and 600 trios (patient and both parents). This will allow for rapid understanding of both the risk and modifying genes associated with this disease. Our preliminary results show that 5 per cent of male patients have actionable mutations in XIAP. These findings may revolutionize the treatment of paediatric IBD. Furthermore, we have identified a large number of possible causal variants in numerous genes. This large-scale project positions my lab as a leader in IBD paediatric genetics and ensures further success with a number of translational projects focused on understanding the pathogenesis and natural history of IBD.

External Funding

  • Canadian Institute of Health Research - Operating Grant (PI with John Brumell): Studies of novel IBD-associated genes and their impact on innate immunity.
  • Canadian Institute of Health Research - Operating Grant: Genetic and Functional Studies in Very Early Onset-OBD (NEOPICS)
  • The Leona M. and Harry B. Helmsley Charitable Trust: Defining and Developing the Therapeutic Pipeline for VEO IBD: Toronto Studies
  • Crohn’s and Colitis Foundation of America and PROKIIDS: NEOPICS – Defining Very Early Onset IBD
  • Crohn’s and Colitis Canada (PI with Daniela Rotin): Role of PTPsigma and adherens junction proteins in IBD

Achievements

INTERNATIONAL

  • 2015: AGA/GRG - Young Investigator Award in Basic Science, Gastroenterology Research Group (GRG) and American Gastroenterology Association (AGA) ($3,000US) - http://paperity.org/p/73761133/grg-presidents-report
  • 2010: George Ferry Young Investigator Development Award, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition Society (NASPGHAN) ($150,000CAD)

NATIONAL

  • 2014: Institute of Nutrition, Metabolism and Diabetes (INMD) New Investigator Partnership Prize, Canadian Institute of Health Research ($2,500)
  • 2014: Canadian Association of Gastroenterology Young Investigator Award, Canadian Association of Gastroenterology - http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4071914/pdf/cjgh-28-178.pdf
  • 2011: Future Leaders in IBD (FLIBD) Award ($75,000)
  • 2009-14: Early Researcher Award (ER08-05-087), Ontario Ministry of Research and Innovation ($140,000)
  • 2008-12: New Investigator Award, Canadian Institute of Health Research (CIHR)/Crohn’s and Colitis Foundation of Canada (CCFC)/Canadian Association of Gastroenterology (CAG) ($70,000 salary plus $40,000 operating grant per year – Total $440,000)
  • 2008-12: Career Enhancement Award, Canadian Child Health Clinician Scientist Program (CCHCSP)/CIHR ($20,000)

LOCAL (University of Toronto)

  • 2012: Early Career Physician Researcher Award, Department of Pediatrics, University of Toronto ($1000)

Publications

For a complete list of publications please see PubMed

1. De Greef E, Mennie K, Muise AM. Drug reaction with eosinophilia and systemic symptoms. Canadian Medical Association Journal 2010: 23:182(5):481.

2. Muise AM, Walters T, Xu W, Shen-Tu G, Guo CH, Fattouh R, Lam GY, Wolters VM, Bennitz J, Van Limbergen J, Renbaum P, Kasirer Y, Ngan BY, Turner D, Denson LA, Sherman PM, Duerr RH, Cho J, Lees CW, Satsangi J, Wilson DC, Paterson AD, Griffiths AM, Glogauer M, Silverberg MS, Brumell JH. Single nucleotide polymorphisms that increase expression of the guanosine triphosphatase RAC1 are associated with ulcerative colitis. Gastroenterology 2011: 141(2):633–641.

3. Wolters VM, Xu W, Zhao X, Walters TD, Griffiths AM, Silverberg MS, Muise AM. Replication of genetic variation in MYO9B gene in Crohn´s disease. Human Immunology 2011: 72(7):592-597.

4. Turner D, Mack DR, Hyams J, LeLeiko N, Otley A, Markowitz J, Kasirer Y, Muise AM, Seow C, Silverberg MS, Crandall W, Griffiths AM. C-reactive protein (CRP), erythrocyte sedimentation rate (ESR) or both? A systematic evaluation in pediatric ulcerative colitis. Journal of Crohn’s & Colitis 2011: 5(5):423-429.

5. Lam GY, Fattouh R, Muise AM, Grinstein S, Higgins DE, Brumell JH. Listeriolysin O suppresses phospholipase C-mediated activation of the microbicidal NADPH oxidase to promote Listeria monocytogenes infection. Cell Host & Microbe 2011: 10(6):627-634.

6. Muise AM, Xu W, Guo CH, Walters TD, Wolters VM, Fattouh R, Lam GY, Hu P, Murchie R, Sherlock M, Gana JC; NEOPICS, Russell RK, Glogauer M, Duerr RH, Cho JH, Lees CW, Satsangi J, Wilson DC, Paterson AD, Griffiths AM, Silverberg MS, Brumell JH. NADPH oxidase complex and IBD candidate gene studies: Identification of a rare variant in NCF2 that results in reduced binding to RAC2. Gut 2012: 61(7):1028-1035.

7. Snapper SB, Kugathasan S. The age of gene discovery in very early onset inflammatory bowel disease. Gastroenterology 2012: 143(2):285-288.

8. Moran CJ, Walters TD, Guo CH, Kugathasan S, Klein C, Turner D, Wolters VM, Bandsma RH, Mouzaki M, Zachos M, Langer JC, Cutz E, Benseler SM, Roifman CM, Silverberg MS, Griffiths AM, Snapper SB, Muise AM. IL-10R polymorphisms are associated with very-early-onset ulcerative colitis.  Inflammatory Bowel Diseases 2013: 19(1):115-123.

9. Engelhardt KR, Shah N, Faizura-Yeop I, Kocacik Uygun DF, Frede N, Muise AM, Shteyer E, Filiz S, Chee R, Elawad M, Hartmann B, Arkwright PD, Dvorak C, Klein C, Puck JM, Grimbacher B, Glocker EO. Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation. Journal of Allergy and Clinical Immunology 2013: 131(3):825-830.

10. Tyler AD, Milgrom R, Stempak JM, Xu W, Brumell JH, Muise AM, Sehgal R, Cohen Z, Koltun W, Shen B, Silverberg MS. The NOD2insC polymorphism is associated with worse outcome following ileal pouch-anal anastomosis for ulcerative colitis. Gut 2013: 62(10):1433-1439.

11. Sherlock ME, Walters T, Tabbers MM, Frost K, Zachos M, Muise AM, Pope E, Griffiths AM. Infliximab-induced psoriasis and psoriasiform skin lesions in pediatric Crohn disease and a potential association with an IL-23 receptor polymorphism. Journal of Pediatric Gastroenterology and Nutrition 2013: 56(5):512-518.

12. Turner D, Wolters VM, Russell RK, Shakhnovich V, Muise AM, Ledder O, Ngan B, Friesen C. Anti-TNF, infliximab and adalimumab can be effective in eosinophilic bowel disease. Journal of Pediatric Gastroenterology and Nutrition 2013: 56(5):492-497.

13. Wine E, Mack DR, Hyams J, Otley AR, Markowitz J, Crandall WV, Leleiko N, Muise AM, Griffiths AM, Turner D. Interleukin-6 is associated with steroid resistance and reflects disease activity in severe pediatric ulcerative colitis. Journal of Crohns & Colitis 2013:7(11): 916-922.

14. Lam GY, Cemma M, Muise AM, Higgins DE, Brumell JH. Host and bacterial factors that regulate LC3 recruitment to Listeria monocytogenes during the early stages of macrophage infection. Autophagy 2013: 9(7):985-995.

15. Papapietro O, Teatero S, Thanabalasuriar A, Yuki KE, Diez E, Zhu L, Kang E, Dhillon S, Muise AM, Durocher Y, Marcinkiewicz MM, Malo D, Gruenheid S. R-spondin 2 signalling mediates susceptibility to fatal infectious diarrhoea. Nature Communications 2013:4:1898.

16. Fattouh R, Guo CH, Lam GY, Gareau MG, Ngan BY, Glogauer M, Muise AM*, Brumell JH*. Rac2-deficiency leads to exacerbated and protracted colitis in response to Citrobacter rodentium infection. PLoS ONE 2013: 8(4):e61629.

17. Xing X, Brumell JH, Silverberg MS, Xu W. Association between a multi-locus genetic risk score and inflammatory bowel disease. Bioinformatics and Biology Insights 2013: 7:143-152.

18. Theöni C, Amir A, Guo C, Zhang S, Avitzur Y, Heng YM, Cutz E, Muise AM. A novel nonsense mutation in the EpCAM gene in a patient with congenital tufting enteropathy. Journal of Pediatric Gastroenterology and Nutrition 2014: 58(1):18-21.

19. Theöni CE, Vogel GF, Tancevski I, Geley S, Lechner S, Pfaller K, Hess MW, Müller T, Janecke AR, Avitzur Y, Muise AM, Cutz E, Huber LA. Microvillus inclusion disease: loss of Myosin vb disrupts intracellular traffic and cell polarity. Traffic 2014: 15(1):22-42.

20. Dhillon S, Mastropaolo L, Griffiths C, Theöni C, Elkadri A, Xu W, Mack A, Walters T, Guo, Conghui, Mack D, Huynh H, Baksh S, Silverberg M, Brumell JH, Snapper SB, Muise, AM. Higher activity of the inducible nitric oxide synthase contributes to very early onset of inflammatory bowel disease. Clinical Translational Gastroenterology 2014: 5(1): e46.

21. Murchie R, Guo CH, Persaud A, Muise AM, Rotin D. Protein tyrosine phosphatase σ targets apical junction complex proteins in the intestine and regulates epithelial permeability. PNAS 2014: 111(2):693-698.

22. Burghardt KM, Avinashi V, Kosar C, Xu W, Wales PW, Avitzur Y, Muise AM. A CARD9 polymorphism is associated with decreased likelihood of persistent conjugated hyperbilirubinemia in intestinal failure. PLoS One 2014: 9(1):e85915.

23. Shouval DS, Ouahed J, Biswas A, Goettel JA, Horwitz BH, Klein C, Muise AM, Snapper SB. Interleukin 10 receptor signaling: master regulator of intestinal mucosal homeostasis in mice and humans. Advances in Immunology 2014: 122:177-210.

24. Avitzur Y, Guo C, Mastropaolo LA, Bahrami E, Chen H, Zhao Z, Elkadri A, Dhillon S, Murchie R, Fattouh R, Huynh H, Walker JL, Wales PW, Cutz E, Kakuta Y, Dudley J, Kammermeier J, Powrie F, Shah N, Walz C, Nathrath M, Kotlarz D, Puchaka J, Krieger J, Racek T, Kirchner T, Walters TD, Brumell JH, Griffiths AM, Rezaei N, Rashtian P, Najafi M, Monajemzadeh M, Pelsue S, McGovern DP, Uhlig HH, Schadt E, Klein C, Snapper SB, Muise AM. Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease. Gastroenterology 2014: 146(4):1028-1039.

25. Murugan D, Albert MH, Langemeier J, Bohne J, Puchalka J, Järvinen PM, Hauck F, Klenk AK, Prell C, Schatz S, Diestelhorst J, Sciskala B, Kohistani N, Belohradsky BH, Müller S, Kirchner T, Walter MR, Bufler P, Muise AM, Snapper SB, Koletzko S, Klein C, Kotlarz D. Very early onset inflammatory bowel disease associated with aberrant trafficking of IL-10R1 and cure by T cell replete haploidentical bone marrow transplantation. Journal of Clinical Immunology. 2014: 34(3):331-339.

26. Czuczman MA, Fattouh R, van Rijn JM, Canadien V, Osborne S, Muise AM, Kuchroo VK, Higgins DE, Brumell JH. Listeria monocytogenes exploits efferocytosis to promote cell-to-cell spread. Nature 2014: 509(7499):230-234.

27. Shouval DS, Biswas A, Goettel JA, McCann K, Conaway E, Redhu NS, Mascanfroni ID, Al Adham Z, Lavoie S, Ibourk M, Nguyen DD, Samsom JN, Escher JC, Somech R, Weiss B, Beier R, Conklin LS, Ebens CL, Santos FG, Ferreira AR, Sherlock M, Bhan AK, Müller W, Mora JR, Quintana FJ, Klein C, Muise AM, Horwitz BH, Snapper SB. Interleukin-10 receptor signaling in innate immune cells regulates mucosal immune tolerance and anti-inflammatory macrophage function. Immunity 2014: 40(5):706-719.

28. Church PC, Guan J, Walters TD, Frost K, Assa A, Muise AM, Griffiths AM. Infliximab Maintains Durable Response and Facilitates Catch-up Growth in Luminal Pediatric Crohn's Disease. Inflammatory Bowel Disease 2014: 20(7):1177-1186.

29. Kim V, Brager R, Upton J, Ngan B, Newell A, Roifman M, Muise AM, Benseler SM, Grunebaum E, Roifman CM. Hematopoietic stem cell transplantation completely reversed colitis but not arthritis in IL-10Rα deficiency. LymphoSign Journal 2014: 1(2):77-86

30. Lee CH, Hsu P, Nanan B, Nanan R, Wong M, Gaskin KJ, Leong RW, Murchie R, Muise AM, Stormon MO. Novel de novo mutations of the Interleukin-10 receptor gene lead to infantile onset inflammatory bowel disease. Journal of Crohn’s & Colitis 2014: 8(11):1551-6.

31. Dhillon SS, Fattouh R, Elkadri A, Xu W, Murchie R, Walters T, Guo CH, Mack D, Huynh H, Baksh S, Silverberg M, Griffiths AM, Snapper S, Brumell JH, Muise AM. Variants in NADPH oxidase complex components determine susceptibility to very early onset inflammatory bowel disease. Gastroenterology 2014: 147(3):680-89.

32. Benchimol EI, Mack DR, Nguyen GC, Snapper SB, Li W, Mojaverian N, Quach P, Muise AM. Incidence, Outcomes, and Health Services Burden of Very Early Onset Inflammatory Bowel Disease. Gastroenterology 2014: 147(4):803-13.

33. Uhlig HH, Schwerd T, Koletzko S, Shah N, Kammermeier J, Elkadri A, Ouahed J, Wilson D, Travis S, Turner D, Klein, Snapper S, Muise AM. Very early onset inflammatory bowel disease diagnostic approach to complex monogenic diseases. Gastroenterology 2014: 147(4):990-1007.

34. Fattouh R, Kwon H, Czuczman M, Copeland J, Pelletier L, Quinlan M, Muise AM, Higgins D, Brumell JH. The Diaphanous-related Formins Promote Protrusion Formation and Cell-to-Cell Spread of Listeria monocytogenes. Journal of Infectious Diseases 2015: 211(7):1185-95.

35. Moran CJ, Muise AM, Klein C, Snapper SB. Very Early Onset Inflammatory Bowel Disease – Gaining Insight through Focused Discovery. Inflammatory Bowel Disease Journal 2015: 21(5):1166-75.

36. Gassas A, Courtney S, Armstrong C, Kapllani E, Muise AM, Schechter. Unrelated donor hematopoietic stem cell transplantation for infantile enteropathy due to IL-10/IL-10 receptor defect. Pediatr Transplant. 2015:19(4):E101-3.

37. Goettel JA, Biswas S, Lexmond WS, Yeste A, Passerini L, Patel B, Yang S, Sun J, Ouahed J, Shouval DS, McCann KJ, Horwitz BH, Mathis D, Milford EL, Notarangelo LD, Roncarolo MG, Fiebiger E, Marasco WA, Bacchetta R, Quintana FJ, Pai SY, Muise AM, Snapper SB. Fatal autoimmunity in mice reconstituted with human hematopoietic stem cells encoding defective FOXP3. Blood 2015: 125(25):3886-95.

38. Lev-Tzion R, Renbaum P, Beeri R, Ledder O, Mevorach R, Karban A, Koifman E, Efrati E, Muise AM, Chowers Y, Turner D. Rac1 Polymorphisms and Thiopurine Efficacy in Children with Inflammatory Bowel Disease. J Pediatr Gastroenterol Nutr. 2015: 61(4):404-7.

39. Elkadri A, Thoeni C, Deharvengt SJ, Murchie R, Guo CH, Stavropoulos JD, Marshall CR, Wales P, Cutz E, Roifman CM, Chitayat D, Avitzur Y, Stan RS, Muise AM. Mutations in Plasmalemma Vesicle Associated Protein (PLVAP) Result in Sieving Protein Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and Hypertriglyceridemia. Cellular and Molecular Gastroenterology and Hepatology 2015: 1(4):381-393.

40. Hayes P, Dhillon S, O’Neill K, Thoeni C, Hui KY, Elkadri A, Guo CH, Kovacic L, Aviello G, Alvarez LA, Griffiths AM, Snapper SB, Brant SR, Doroshow JH, Silverberg MS, Peter I, McGovern DPB, Cho J, Brumell JH, Uhlig HH, Bourke B, Muise AM, Knaus UG. Defects in NADPH Oxidase Genes NOX1 and DUOX2 in Very Early Onset Inflammatory Bowel Disease. Cellular and Molecular Gastroenterology and Hepatology 2015:1(5): 489-502.

41. Janecke AR, Heinz-Erian P, Yin J, Petersen B-S, Franke A, Lechner S, Fuchs I, Melancon S, Uhlig HH, Travis S, Marinier E, Perisic V, Ristic N, Gerner P, Booth IW, Wedenoja S, Baumgartner N, Vodopiutz J, Frechette-Duval MC, De Lafollie J, Persad R, Warner N, Tse CM, Sud K, Zachos NC, Sarker R, Zhu X, Muise AM, Zimmer KP, Witt H, Zoller H, Donowitz M, and Müller T. Reduced sodium-proton exchanger NHE3 activity causes congenital sodium diarrhea. Human Molecular Genetics. 2015: 24(23):6614-23.

42. Schwerd T, Pandey S, Yang HT, Bagola K, Jameson E, Jung J, Lachmann RH, Shah N, Patel SY, Booth C, Runz H, Düker G, Bettels R, Rohrbach M, Kugathasan S, Chapel H, Keshav S, Elkadri A, Platt N, Muise AM, Koletzko S, Xavier RJ, Marquardt T, Powrie F, Wraith JE, Gyrd-Hansen M, Platt FM, Uhlig HH. Impaired anti-bacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn’s disease. Accepted in Gut, 2016.

43. Shouval DR, Ebens CL, Murchie R, McCann K, Rabah R, Muise AM, Snapper SB. Large B-cell lymphoma in an adolescent patient with IL-10 receptor deficiency and history of infantile inflammatory bowel disease. JPGN. 2016: 63(1):e15-e17.

44. Thoeni C, Hamilton E, Elkadri A, Murchie R, Fiedler K, Ovadia A, Sharfe N, Ngan BY, Cutz E, Nahum A, Muise AM, Roifman CM. The effects of STAT1 dysfunction on the gut. LymphoSign Journal 2016: 3(1):19-33.

45. Pan J, Thoeni C, Muise AM, Yeger H, Cutz E. Multilabel immunofluorescence and antigen re-probing on formalin fixed paraffin embedded sections-new tools for precision diagnosis in pathology. Modern Pathology 2016: 29(6):557-69.

46. Li Q, Lee C, Peters L*, Mastropaolo L, Thöni C, Elkadri A, Schwerd T, Zhu J, Zhang B, Zhao YZ, Hao K, Dinarzo A, Hoffman G, Kidd BA, Murchie, R, Al Adham Z, Guo C, Kotlarz D, Cutz E, Walters T, Shouval D, Curran M, Dobrin R, Brodmerkel C, Snapper S, Klein C, Brumell JH, Hu MJ, Nanan R, Snanter-Nanan B, Wong M, Le Deist F, Haddad E, Roifman CM, Gaskin K, Deslandres C, Griffiths AM, Uhlig H, Schadt E, Muise AM. Variants in TRIM22 that Affect NOD2 Signaling Are Associated With Very Early Onset Inflammatory Bowel Disease. Gastroenterology 2016: 150(5):1196-207.

47. Assa A, Butcher J, Li J, Elkadri A, Sherman P, Muise AM, Stintzi A, Mack D. Mucosa-associated ileal microbiota in new-onset pediatric Crohn’s disease. IBD Journal 2016: 22:1533–1539.

48. Muise AM, Walter T, Rosen M, Controversies in Pediatric IBD. China Journal Evidence Based Pediatrics, 2016: 111(3):168-70.

49. Chuang LS, Villaverde N, Hui KY, Mortha A, Rahman A, Levine AP, Haritunians T, Ng SME, Zhang W, Hsu NY, Facey JA, Luong T, Fernandez-Hernandez H, Li D, Rivas M, Elena Schiff R, Gusev A, Schumm P, Bowen BM, Sharma Y, Ning K, Remark R, Gnjatic S, Legnani P, George J, Kornbluth A, Sands B, Stempak JM, Datta LW, Lipka S, Katz S, Cheifetz AS, Barzilai N, Pontikos N, Abraham C, Dubinsky MJ, Targan S, Rotter JI, Desnick RJ, Abreu MT, Zhao H, Atzmon G, Pe’er I, Kugathasan S, Hakonarson H, McCauley JL, Lencz T, Darvasi A, Plagnol V, Silverberg MS, Muise AM, Brant SR, Daly MJ, Segal AW, Duerr RH, Scherl WJ, Merad M, McGovern DPB, Peter I, Cho JH. A Frameshift in CSF2RB Predominant Among Ashkenazi Jews Increases Risk for Crohn's Disease and Reduces Monocyte Signaling via GM-CSF. Gastroenterology 151(4):710-723 e2.

50. Shouval D, Biswas A, Kang YH, Griffith AE, Konnikova L, Mascanfroni ID, Redhu NS, Frei1 SM, Field M, Doty AL, Goldsmith JD, Bhan AK, Loizides A, Weiss B, Yerushalmi B, Yanagi T, Lui X, Quintana FJ, Muise AM, Horwitz BH, Glover SC, Bousvaros A, Snapper SB. Interleukin 1beta Mediates Intestinal Inflammation in Mice and Patients With Interleukin 10 Receptor Deficiency. Gastroenterology 151(6): 1100-1104.