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1. Diet management in congenital diarrheas and enteropathies - general concepts and disease-specific approach, a narrative review.

Author

Avitzur, Yaron, Jimenez, Lissette, Martincevic, Inez, Acra, Sari, Courtney-Martin, Glenda, Gray, Megan, Hope, Kayla, Muise, Aleixo, Prieto Jimenez, Paula, Taylor, Nancy, Thiagarajah, Jay, and Martín, Martín

Subjects
children, enteral autonomy, food, formula, neonatal diarrhea, nutrition, parenteral nutrition, treatment, tube feeding, weaning, Humans, Enteral Nutrition, Diarrhea, Infant, Parenteral Nutrition, Intestinal Diseases, Infant, Newborn, Dietary Supplements, Diarrhea, Infantile
Abstract

Congenital diarrheas and enteropathies (CODE) are a group of rare, heterogenous, monogenic disorders that lead to chronic diarrhea in infancy. Definitive treatment is rarely available, and supportive treatment is the mainstay. Nutritional management in the form of either specialized formulas, restrictive diet, or parenteral nutrition support in CODE with poor enteral tolerance is the cornerstone of CODE treatment and long-term growth. The evidence to support the use of specific diet regimens and nutritional approaches in most CODE disorders is limited due to the rarity of these diseases and the scant published clinical experience. The goal of this review was to create a comprehensive guide for nutritional management in CODE, based on the currently available literature, disease mechanism, and the PediCODE group experience. Enteral diet management in CODE can be divided into 3 distinct conceptual frameworks: nutrient elimination, nutrient supplementation, and generalized nutrient restriction. Response to nutrient elimination or supplementation can lead to resolution or significant improvement in the chronic diarrhea of CODE and resumption of normal growth. This pattern can be seen in CODE due to carbohydrate malabsorption, defects in fat absorption, and occasionally in electrolyte transport defects. In contrast, general diet restriction is mainly supportive. However, occasionally it allows parenteral nutrition weaning or reduction over time, mainly in enteroendocrine defects and rarely in epithelial trafficking and polarity defects. Further research is required to better elucidate the role of diet in the treatment of CODE and the appropriate diet management for each disease.

Published
2024

3. Precision medicine in monogenic inflammatory bowel disease: proposed mIBD REPORT standards

Author

Uhlig, Holm H., Booth, Claire, Cho, Judy, Dubinsky, Marla, Griffiths, Anne M., Grimbacher, Bodo, Hambleton, Sophie, Huang, Ying, Jones, Kelsey, Kammermeier, Jochen, Kanegane, Hirokazu, Koletzko, Sibylle, Kotlarz, Daniel, Klein, Christoph, Lenardo, Michael J., Lo, Bernice, McGovern, Dermot P. B., Özen, Ahmet, de Ridder, Lissy, Ruemmele, Frank, Shouval, Dror S., Snapper, Scott B., Travis, Simon P., Turner, Dan, Wilson, David C., and Muise, Aleixo M.

Published
2023
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4. “Deficiency in ELF4, X-Linked”: a Monogenic Disease Entity Resembling Behçet’s Syndrome and Inflammatory Bowel Disease

Author

Olyha, Sam J., O’Connor, Shannon K., Kribis, Marat, Bucklin, Molly L., Uthaya Kumar, Dinesh Babu, Tyler, Paul M., Alam, Faiad, Jones, Kate M., Sheikha, Hassan, Konnikova, Liza, Lakhani, Saquib A., Montgomery, Ruth R., Catanzaro, Jason, Du, Hongqiang, DiGiacomo, Daniel V., Rothermel, Holly, Moran, Christopher J., Fiedler, Karoline, Warner, Neil, Hoppenreijs, Esther P.A.H., van der Made, Caspar I., Hoischen, Alexander, Olbrich, Peter, Neth, Olaf, Rodríguez-Martínez, Alejandro, Lucena Soto, José Manuel, van Rossum, Annemarie M.C., Dalm, Virgil A.S.H., Muise, Aleixo M., and Lucas, Carrie L.

Published
2024
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5. The Diverse Phenotype of Intestinal Dysmotility Secondary to ACTG2-related Disorders

Author

Sandy, Natascha S, Huysentruyt, Koen, Mulder, Daniel J, Warner, Neil, Chong, Karen, Morel, Chantal, AlQahtani, Saleh, Wales, Paul W, Martin, Martin G, Muise, Aleixo M, and Avitzur, Yaron

Subjects
Paediatrics, Biomedical and Clinical Sciences, Clinical Sciences, Nutrition and Dietetics, Rare Diseases, Genetics, Pediatric, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Abnormalities, Multiple, Actins, Colon, Female, Humans, Intestinal Pseudo-Obstruction, Male, Phenotype, Pregnancy, Urinary Bladder, ACTG2, dysmotility, megacystis-microcolon-intestinal hypoperistalsis, visceral myopathy, Medical and Health Sciences, Gastroenterology & Hepatology, Clinical sciences, Nutrition and dietetics
Abstract

Background and aimsThe initial description of a heterozygous dominant ACTG2 variant in familial visceral myopathy was followed by the identification of additional variants in other forms of intestinal dysmotility disorders. we aimed to describe the diverse phenotype of this newly reported and rare disease.MethodsReport of 4 new patients, and a systematic review of ACTG2-related disorders. we analyzed the population frequency and used in silico gene damaging predictions. Genotype-phenotype correlations were explored.ResultsOne hundred three patients (52% girls), from 14 publications, were included. Twenty-eight unique variants were analyzed, all exceedingly rare, and 27 predicted to be highly damaging. The median Combined Annotation Dependent Depletion (CADD) score was 29.2 (Interquartile range 26.3-29.4). Most patients underwent abdominal surgery (66%), about half required intermittent bladder catheterization (48.5%), and more than half were parenteral nutrition (PN)-dependent (53%). One-quarter of the patients died (25.7%), and 6 required transplant (5.8%). Girls had a higher rate of microcolon (P  = 0.009), PN dependency (P = 0.003), and death/transplant (P = 0.029) compared with boys, and early disease onset (

Published
2022

10. CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease.

Author

Magg, Thomas, Shcherbina, Anna, Arslan, Duran, Desai, Mukesh M, Wall, Sarah, Mitsialis, Vanessa, Conca, Raffaele, Unal, Ekrem, Karacabey, Neslihan, Mukhina, Anna, Rodina, Yulia, Taur, Prasad D, Illig, David, Marquardt, Benjamin, Hollizeck, Sebastian, Jeske, Tim, Gothe, Florian, Schober, Tilmann, Rohlfs, Meino, Koletzko, Sibylle, Lurz, Eberhard, Muise, Aleixo M, Snapper, Scott B, Hauck, Fabian, Klein, Christoph, and Kotlarz, Daniel

Subjects
Autoimmune Disease, Clinical Research, Genetics, Human Genome, Inflammatory Bowel Disease, Pediatric, Crohn's Disease, Digestive Diseases, 2.1 Biological and endogenous factors, Detection, screening and diagnosis, 4.1 Discovery and preclinical testing of markers and technologies, Aetiology, Inflammatory and immune system, Oral and gastrointestinal, Age of Onset, Child, Child, Preschool, Female, Genetic Predisposition to Disease, Humans, Inflammatory Bowel Diseases, Lymphocytes, Male, Microfilament Proteins, Mutation, Phenotype, Exome Sequencing, immunodeficiency, very early onset inflammatory bowel diseases, CARMIL2, Clinical Sciences, Gastroenterology & Hepatology
Abstract

BackgroundChildren with very early onset inflammatory bowel diseases (VEO-IBD) often have a refractory and severe disease course. A significant number of described VEO-IBD-causing monogenic disorders can be attributed to defects in immune-related genes. The diagnosis of the underlying primary immunodeficiency (PID) often has critical implications for the treatment of patients with IBD-like phenotypes.MethodsTo identify the molecular etiology in 5 patients from 3 unrelated kindred with IBD-like symptoms, we conducted whole exome sequencing. Immune workup confirmed an underlying PID.ResultsWhole exome sequencing revealed 3 novel CARMIL2 loss-of-function mutations in our patients. Immunophenotyping of peripheral blood mononuclear cells showed reduction of regulatory and effector memory T cells and impaired B cell class switching. The T cell proliferation and activation assays confirmed defective responses to CD28 costimulation, consistent with CARMIL2 deficiency.ConclusionOur study highlights that human CARMIL2 deficiency can manifest with IBD-like symptoms. This example illustrates that early diagnosis of underlying PID is crucial for the treatment and prognosis of children with VEO-IBD.

Published
2019

11. Author Correction: Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

Author

Serra, Eva Gonçalves, Schwerd, Tobias, Moutsianas, Loukas, Cavounidis, Athena, Fachal, Laura, Pandey, Sumeet, Kammermeier, Jochen, Croft, Nicholas M., Posovszky, Carsten, Rodrigues, Astor, Russell, Richard K., Barakat, Farah, Auth, Marcus K. H., Heuschkel, Robert, Zilbauer, Matthias, Fyderek, Krzysztof, Braegger, Christian, Travis, Simon P., Satsangi, Jack, Parkes, Miles, Thapar, Nikhil, Ferry, Helen, Matte, Julie C., Gilmour, Kimberly C., Wedrychowicz, Andrzej, Sullivan, Peter, Moore, Carmel, Sambrook, Jennifer, Ouwehand, Willem, Roberts, David, Danesh, John, Baeumler, Toni A., Fulga, Tudor A., Carrami, Eli M, Ahmed, Ahmed, Wilson, Rachel, Barrett, Jeffrey C., Elkadri, Abdul, Griffiths, Anne M., Snapper, Scott B., Shah, Neil, Muise, Aleixo M., Wilson, David C., Uhlig, Holm H., and Anderson, Carl A.

Published
2022
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14. An Integrated Taxonomy for Monogenic Inflammatory Bowel Disease

Author

Bolton, Chrissy, Smillie, Christopher S., Pandey, Sumeet, Elmentaite, Rasa, Wei, Gabrielle, Argmann, Carmen, Aschenbrenner, Dominik, James, Kylie R., McGovern, Dermot P.B., Macchi, Marina, Cho, Judy, Shouval, Dror S., Kammermeier, Jochen, Koletzko, Sibylle, Bagalopal, Krithika, Capitani, Melania, Cavounidis, Athena, Pires, Elisabete, Weidinger, Carl, McCullagh, James, Arkwright, Peter D., Haller, Wolfram, Siegmund, Britta, Peters, Lauren, Jostins, Luke, Travis, Simon P.L., Anderson, Carl A., Snapper, Scott, Klein, Christoph, Schadt, Eric, Zilbauer, Matthias, Xavier, Ramnik, Teichmann, Sarah, Muise, Aleixo M., Regev, Aviv, and Uhlig, Holm H.

Published
2022
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17. Advances in Evaluation of Chronic Diarrhea in Infants

Author

Thiagarajah, Jay R, Kamin, Daniel S, Acra, Sari, Goldsmith, Jeffrey D, Roland, Joseph T, Lencer, Wayne I, Muise, Aleixo M, Goldenring, James R, Avitzur, Yaron, Martín, Martín G, and Consortium, PediCODE

Subjects
Clinical Research, Foodborne Illness, Pediatric, Stem Cell Research, Genetics, Digestive Diseases, Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, Biopsy, Chronic Disease, Critical Pathways, Diarrhea, Infantile, Endoscopy, Digestive System, Enterocytes, Enteroendocrine Cells, Genetic Testing, Humans, Infant, Infant, Newborn, Intestinal Diseases, Mutation, Whole Genome Sequencing, Gastrointestinal Disorder, Inherited, Detection, PediCODE Consortium, Clinical Sciences, Neurosciences, Paediatrics and Reproductive Medicine, Gastroenterology & Hepatology
Abstract

Diarrhea is common in infants (children less than 2 years of age), usually acute, and, if chronic, commonly caused by allergies and occasionally by infectious agents. Congenital diarrheas and enteropathies (CODEs) are rare causes of devastating chronic diarrhea in infants. Evaluation of CODEs is a lengthy process and infrequently leads to a clear diagnosis. However, genomic analyses and the development of model systems have increased our understanding of CODE pathogenesis. With these advances, a new diagnostic approach is needed. We propose a revised approach to determine causes of diarrhea in infants, including CODEs, based on stool analysis, histologic features, responses to dietary modifications, and genetic tests. After exclusion of common causes of diarrhea in infants, the evaluation proceeds through analyses of stool characteristics (watery, fatty, or bloody) and histologic features, such as the villus to crypt ratio in intestinal biopsies. Infants with CODEs resulting from defects in digestion, absorption, transport of nutrients and electrolytes, or enteroendocrine cell development or function have normal villi to crypt ratios; defects in enterocyte structure or immune-mediated conditions result in an abnormal villus to crypt ratios and morphology. Whole-exome and genome sequencing in the early stages of evaluation can reduce the time required for a definitive diagnosis of CODEs, or lead to identification of new variants associated with these enteropathies. The functional effects of gene mutations can be analyzed in model systems such as enteroids or induced pluripotent stem cells and are facilitated by recent advances in gene editing procedures. Characterization and investigation of new CODE disorders will improve management of patients and advance our understanding of epithelial cells and other cells in the intestinal mucosa.

Published
2018

18. Landscape of TPMT and NUDT15 Pharmacogenetic Variation in a Cohort of Canadian Pediatric Inflammatory Bowel Disease Patients

Author

Kennedy, April M, primary, Griffiths, Anne M, additional, Muise, Aleixo M, additional, Walters, Thomas D, additional, Ricciuto, Amanda, additional, Huynh, Hien Q, additional, Wine, Eytan, additional, Jacobson, Kevan, additional, Lawrence, Sally, additional, Carman, Nicholas, additional, Mack, David R, additional, deBruyn, Jennifer C, additional, Otley, Anthony R, additional, Deslandres, Colette, additional, El-Matary, Wael, additional, Zachos, Mary, additional, Benchimol, Eric I, additional, Critch, Jeffrey, additional, Schneider, Rilla, additional, Crowley, Eileen, additional, Li, Michael, additional, Warner, Neil, additional, McGovern, Dermot P B, additional, Li, Dalin, additional, Haritunians, Talin, additional, Rudin, Sarah, additional, and Cohn, Iris, additional

Published
2024
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21. Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice

Author

Wang, Lin, Aschenbrenner, Dominik, Zeng, Zhiyang, Cao, Xiya, Mayr, Daniel, Mehta, Meera, Capitani, Melania, Warner, Neil, Pan, Jie, Wang, Liren, Li, Qi, Zuo, Tao, Cohen-Kedar, Sarit, Lu, Jiawei, Ardy, Rico Chandra, Mulder, Daniel J., Dissanayake, Dilan, Peng, Kaiyue, Huang, Zhiheng, Li, Xiaoqin, Wang, Yuesheng, Wang, Xiaobing, Li, Shuchao, Bullers, Samuel, Gammage, Anís N., Warnatz, Klaus, Schiefer, Ana-Iris, Krivan, Gergely, Goda, Vera, Kahr, Walter H. A., Lemaire, Mathieu, Lu, Chien-Yi, Siddiqui, Iram, Surette, Michael G., Kotlarz, Daniel, Engelhardt, Karin R., Griffin, Helen R., Rottapel, Robert, Decaluwe, Hélène, Laxer, Ronald M., Proietti, Michele, Hambleton, Sophie, Elcombe, Suzanne, Guo, Cong-Hui, Grimbacher, Bodo, Dotan, Iris, Ng, Siew C., Freeman, Spencer A., Snapper, Scott B., Klein, Christoph, Boztug, Kaan, Huang, Ying, Li, Dali, Uhlig, Holm H., and Muise, Aleixo M.

Published
2021
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25. A Frameshift in CSF2RB Predominant Among Ashkenazi Jews Increases Risk for Crohn's Disease and Reduces Monocyte Signaling via GM-CSF

Author

Chuang, Ling-Shiang, Villaverde, Nicole, Hui, Ken Y, Mortha, Arthur, Rahman, Adeeb, Levine, Adam P, Haritunians, Talin, Ng, Sok Meng Evelyn, Zhang, Wei, Hsu, Nai-Yun, Facey, Jody-Ann, Luong, Tramy, Fernandez-Hernandez, Heriberto, Li, Dalin, Rivas, Manuel, Schiff, Elena R, Gusev, Alexander, Schumm, L Phillip, Bowen, Beatrice M, Sharma, Yashoda, Ning, Kaida, Remark, Romain, Gnjatic, Sacha, Legnani, Peter, George, James, Sands, Bruce E, Stempak, Joanne M, Datta, Lisa W, Lipka, Seth, Katz, Seymour, Cheifetz, Adam S, Barzilai, Nir, Pontikos, Nikolas, Abraham, Clara, Dubinsky, Marla J, Targan, Stephan, Taylor, Kent, Rotter, Jerome I, Scherl, Ellen J, Desnick, Robert J, Abreu, Maria T, Zhao, Hongyu, Atzmon, Gil, Pe’er, Itsik, Kugathasan, Subra, Hakonarson, Hakon, McCauley, Jacob L, Lencz, Todd, Darvasi, Ariel, Plagnol, Vincent, Silverberg, Mark S, Muise, Aleixo M, Brant, Steven R, Daly, Mark J, Segal, Anthony W, Duerr, Richard H, Merad, Miriam, McGovern, Dermot PB, Peter, Inga, and Cho, Judy H

Subjects
Clinical Research, Genetics, Inflammatory Bowel Disease, Digestive Diseases, Crohn's Disease, 2.1 Biological and endogenous factors, Aetiology, Case-Control Studies, Crohn Disease, Cytokine Receptor Common beta Subunit, Female, Frameshift Mutation, Granulocyte-Macrophage Colony-Stimulating Factor, Humans, Intestines, Jews, Male, Monocytes, Risk Factors, Signal Transduction, IBD, Risk Factor, Ethnic Variation, Clinical Sciences, Neurosciences, Paediatrics and Reproductive Medicine, Gastroenterology & Hepatology
Abstract

Background & aimsCrohn's disease (CD) has the highest prevalence in Ashkenazi Jewish populations. We sought to identify rare, CD-associated frameshift variants of high functional and statistical effects.MethodsWe performed exome sequencing and array-based genotype analyses of 1477 Ashkenazi Jewish individuals with CD and 2614 Ashkenazi Jewish individuals without CD (controls). To validate our findings, we performed genotype analyses of an additional 1515 CD cases and 7052 controls for frameshift mutations in the colony-stimulating factor 2-receptor β common subunit gene (CSF2RB). Intestinal tissues and blood samples were collected from patients with CD; lamina propria leukocytes were isolated and expression of CSF2RB and granulocyte-macrophage colony-stimulating factor-responsive cells were defined by adenomatous polyposis coli (APC) time-of-flight mass cytometry (CyTOF analysis). Variants of CSF2RB were transfected into HEK293 cells and the expression and functions of gene products were compared.ResultsIn the discovery cohort, we associated CD with a frameshift mutation in CSF2RB (P = 8.52 × 10(-4)); the finding was validated in the replication cohort (combined P = 3.42 × 10(-6)). Incubation of intestinal lamina propria leukocytes with granulocyte-macrophage colony-stimulating factor resulted in high levels of phosphorylation of signal transducer and activator of transcription (STAT5) and lesser increases in phosphorylation of extracellular signal-regulated kinase and AK straining transforming (AKT). Cells co-transfected with full-length and mutant forms of CSF2RB had reduced pSTAT5 after stimulation with granulocyte-macrophage colony-stimulating factor, compared with cells transfected with control CSF2RB, indicating a dominant-negative effect of the mutant gene. Monocytes from patients with CD who were heterozygous for the frameshift mutation (6% of CD cases analyzed) had reduced responses to granulocyte-macrophage colony-stimulating factor and markedly decreased activity of aldehyde dehydrogenase; activity of this enzyme has been associated with immune tolerance.ConclusionsIn a genetic analysis of Ashkenazi Jewish individuals, we associated CD with a frameshift mutation in CSF2RB. Intestinal monocytes from carriers of this mutation had reduced responses to granulocyte-macrophage colony-stimulating factor, providing an additional mechanism for alterations to the innate immune response in individuals with CD.

Published
2016

26. Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases

Author

Li, Yue, Führer, Marita, Bahrami, Ehsan, Socha, Piotr, Klaudel-Dreszler, Maja, Bouzidi, Amira, Liu, Yanshan, Lehle, Anna S., Magg, Thomas, Hollizeck, Sebastian, Rohlfs, Meino, Conca, Raffaele, Field, Michael, Warner, Neil, Mordechai, Slae, Shteyer, Eyal, Turner, Dan, Boukari, Rachida, Belbouab, Reda, Walz, Christoph, Gaidt, Moritz M., Hornung, Veit, Baumann, Bernd, Pannicke, Ulrich, Idrissi, Eman Al, Alghamdi, Hamza Ali, Sepulveda, Fernando E., Gil, Marine, de Saint Basile, Geneviève, Hönig, Manfred, Koletzko, Sibylle, Muise, Aleixo M., Snapper, Scott B., Schwarz, Klaus, Klein, Christoph, and Kotlarz, Daniel

Published
2019

27. Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease

Author

Bosa, Luca, Batura, Vritika, Colavito, Davide, Fiedler, Karoline, Gaio, Paola, Guo, Conghui, Li, Qi, Marzollo, Antonio, Mescoli, Claudia, Nambu, Ryusuke, Pan, Jie, Perilongo, Giorgio, Warner, Neil, Zhang, Shiqi, Kotlarz, Daniel, Klein, Christoph, Snapper, Scott B., Walters, Thomas D., Leon, Alberta, Griffiths, Anne M., Cananzi, Mara, and Muise, Aleixo M.

Published
2021
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29. The Diaphanous-Related Formins Promote Protrusion Formation and Cell-to-Cell Spread of Listeria monocytogenes

Author

Fattouh, Ramzi, Kwon, Hyunwoo, Czuczman, Mark A, Copeland, John W, Pelletier, Laurence, Quinlan, Margot E, Muise, Aleixo M, Higgins, Darren E, and Brumell, John H

Subjects
Foodborne Illness, Infectious Diseases, Emerging Infectious Diseases, Vaccine Related, Prevention, Digestive Diseases, Actin-Related Protein 2, Actin-Related Protein 2-3 Complex, Actin-Related Protein 3, Adaptor Proteins, Signal Transducing, Carrier Proteins, Cell Surface Extensions, Formins, Gene Knockdown Techniques, Genes, Reporter, HeLa Cells, Host-Pathogen Interactions, Humans, Listeria monocytogenes, Models, Biological, Protein Structure, Tertiary, Thiones, Uracil, rho GTP-Binding Proteins, diaphanous formins, mDia1, mDia2, mDia3, protrusion, Listeria cell-to-cell spread, Arp2/3, HeLa cells, Hela Cells, mDia1, mDia2, mDia3, Biological Sciences, Medical and Health Sciences, Microbiology
Abstract

The Gram-positive bacterium Listeria monocytogenes is a facultative intracellular pathogen whose virulence depends on its ability to spread from cell to cell within an infected host. Although the actin-related protein 2/3 (Arp2/3) complex is necessary and sufficient for Listeria actin tail assembly, previous studies suggest that other actin polymerization factors, such as formins, may participate in protrusion formation. Here, we show that Arp2/3 localized to only a minor portion of the protrusion. Moreover, treatment of L. monocytogenes-infected HeLa cells with a formin FH2-domain inhibitor significantly reduced protrusion length. In addition, the Diaphanous-related formins 1-3 (mDia1-3) localized to protrusions, and knockdown of mDia1, mDia2, and mDia3 substantially decreased cell-to-cell spread of L. monocytogenes. Rho GTPases are known to be involved in formin activation. Our studies also show that knockdown of several Rho family members significantly influenced bacterial cell-to-cell spread. Collectively, these findings identify a Rho GTPase-formin network that is critically involved in the cell-to-cell spread of L. monocytogenes.

Published
2015

32. Intestinal Inflammation and Dysregulated Immunity in Patients With Inherited Caspase-8 Deficiency

Author

Lehle, Anna S., Farin, Henner F., Marquardt, Benjamin, Michels, Birgitta E., Magg, Thomas, Li, Yue, Liu, Yanshan, Ghalandary, Maryam, Lammens, Katja, Hollizeck, Sebastian, Rohlfs, Meino, Hauck, Fabian, Conca, Raffaele, Walz, Christoph, Weiss, Batia, Lev, Atar, Simon, Amos J., Groß, Olaf, Gaidt, Moritz M., Hornung, Veit, Clevers, Hans, Yazbeck, Nadine, Hanna-Wakim, Rima, Shouval, Dror S., Warner, Neil, Somech, Raz, Muise, Aleixo M., Snapper, Scott B., Bufler, Philip, Koletzko, Sibylle, Klein, Christoph, and Kotlarz, Daniel

Published
2019
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34. Efficacy and Safety of Anti-Tumor Necrosis Factor Alpha in Very Early Onset Inflammatory Bowel Disease

Author

Collen, Lauren V, primary, Mitsialis, Vanessa, additional, Kim, David Y, additional, Bresnahan, Mairead, additional, Yang, Jessica, additional, Tuthill, Margaret, additional, Combs, Abigail, additional, Barends, Jared, additional, Field, Michael, additional, Liu, Enju, additional, Bearup, Richelle, additional, Okoroafor, Ibeawuchi, additional, Klein, Christoph, additional, Muise, Aleixo M, additional, Bousvaros, Athos, additional, Ouahed, Jodie, additional, and Snapper, Scott B, additional

Published
2023
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36. Clinical Genomics for the Diagnosis of Monogenic forms of Inflammatory Bowel Disease: A Position Paper from The Paediatric IBD Porto Group of ESPGHAN

Author

Uhlig, Holm H., Charbit-Henrion, Fabienne, Kotlarz, Daniel, Shouval, Dror S., Schwerd, Tobias, Strisciuglio, Caterina, de Ridder, Lissy, van Limbergen, Johan, Macchi, Marina, Snapper, Scott B., Ruemmele, Frank M., Wilson, David C., Travis, Simon P.L., Griffiths, Anne M., Turner, Dan, Klein, Christoph, Muise, Aleixo M., and Russell, Richard K.

Published
2020
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38. Natural History of Very Early Onset Inflammatory Bowel Disease in North America: A Retrospective Cohort Study

Author

Kerur, Basavaraj, Benchimol, Eric I, Fiedler, Karoline, Stahl, Marisa, Hyams, Jeffrey, Stephens, Michael, Lu, Ying, Pfefferkorn, Marian, Alkhouri, Raza, Strople, Jennifer, Kelsen, Judith, Siebold, Leah, Goyal, Alka, Rosh, Joel R, LeLeiko, Neal, Van Limbergen, Johan, Guerrerio, Anthony L, Maltz, Ross, Karam, Lina, Crowley, Eileen, Griffiths, Anne, Heyman, Melvin B, Deneau, Mark, Benkov, Keith, Noe, Joshua, Mouton, Dedrick, Pappa, Helen, Galanko, Joseph A, Snapper, Scott, Muise, Aleixo M, and Kappelman, Michael D

Published
2020
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39. Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation.

Author

Engelhardt, Karin R, Shah, Neil, Faizura-Yeop, Intan, Kocacik Uygun, Dilara F, Frede, Natalie, Muise, Aleixo M, Shteyer, Eyal, Filiz, Serkan, Chee, Ronnie, Elawad, Mamoun, Hartmann, Britta, Arkwright, Peter D, Dvorak, Christopher, Klein, Christoph, Puck, Jennifer M, Grimbacher, Bodo, and Glocker, Erik-Oliver

Subjects
Humans, Colitis, Immunologic Deficiency Syndromes, Interleukin-10, Hematopoietic Stem Cell Transplantation, Mutation, Adult, Child, Child, Preschool, Infant, Infant, Newborn, Female, Male, Receptors, Interleukin-10, Stem Cell Research, Stem Cell Research - Nonembryonic - Human, Rare Diseases, Transplantation, Pediatric, Stem Cell Research - Nonembryonic - Non-Human, Clinical Research, Regenerative Medicine, Digestive Diseases, 5.2 Cellular and gene therapies, Development of treatments and therapeutic interventions, Inflammatory and immune system, IL-10, IL-10 receptor, enterocolitis, mutations, colectomy, hematopoietic stem cell transplantation, Immunology, Allergy
Abstract

BackgroundInherited deficiencies of IL-10 or IL-10 receptor (IL-10R) lead to immune dysregulation with life-threatening early-onset enterocolitis.ObjectivesWe sought to gather clinical data of IL-10/IL-10R-deficient patients and devise guidelines for diagnosis and management, including hematopoietic stem cell transplantation (HSCT).MethodsWe enrolled 40 patients with early-onset enterocolitis and screened for mutations in IL10/IL10R using genetic studies, functional studies, or both of the IL-10 signaling pathway. Medical records of IL-10/IL-10R-deficient patients were reviewed and compiled.ResultsOf 40 patients, we identified 7 with novel mutations, predominantly in consanguineous families with more than 1 affected member. IL-10/IL-10R-deficient patients had intractable enterocolitis, perianal disease, and fistula formation. HSCT was carried out in 2 patients with IL-10 deficiency and 1 patient with IL-10R α chain deficiency and proved to be an effective therapy, leading to rapid improvement of clinical symptoms and quality of life.ConclusionBecause the defect in patients with IL-10/IL-10R deficiency resides in hematopoietic lineage cells and their colitis is resistant to standard immunosuppressive therapy, HSCT should be considered early as a potentially curative therapeutic option.

Published
2013

40. Rac2-deficiency leads to exacerbated and protracted colitis in response to Citrobacter rodentium infection.

Author

Fattouh, Ramzi, Guo, Cong-Hui, Lam, Grace Y, Gareau, Melanie G, Ngan, Bo-Yee, Glogauer, Michael, Muise, Aleixo M, and Brumell, John H

Subjects
Colon, Animals, Mice, Knockout, Mice, Citrobacter rodentium, Enterobacteriaceae Infections, Colitis, rac GTP-Binding Proteins, Male, Knockout, General Science & Technology
Abstract

Recent genetic-based studies have implicated a number of immune-related genes in the pathogenesis of inflammatory bowel disease (IBD). Our recent genetic studies showed that RAC2 is associated with human IBD; however, its role in disease pathogenesis is unclear. Given Rac2's importance in various fundamental immune cell processes, we investigated whether a defect in Rac2 may impair host immune responses in the intestine and promote disease in the context of an infection-based (Citrobacter rodentium) model of colitis. In response to infection, Rac2(-/-) mice showed i) worsened clinical symptoms (days 13-18), ii) increased crypt hyperplasia at days 11 and 22 (a time when crypt hyperplasia was largely resolved in wild-type mice; WT), and iii) marked mononuclear cell infiltration characterized by higher numbers of T (CD3(+)) cells (day 22), compared to WT-infected mice. Moreover, splenocytes harvested from infected Rac2(-/-) mice and stimulated in vitro with C. rodentium lysate produced considerably higher levels of interferon-γ and interleukin-17A. The augmented responses observed in Rac2(-/-) mice did not appear to stem from Rac2's role in NADPH oxidase-driven reactive oxygen species production as no differences in crypt hyperplasia, nor inflammation, were observed in infected NOX2(-/-) mice compared to WT. Collectively, our findings demonstrate that Rac2(-/-) mice develop more severe disease when subjected to a C. rodentium-induced model of infectious colitis, and suggest that impaired Rac2 function may promote the development of IBD in humans.

Published
2013

42. An ATG16L1-dependent pathway promotes plasma membrane repair and limits Listeria monocytogenes cell-to-cell spread

Author

Tan, Joel M. J., Mellouk, Nora, Osborne, Suzanne E., Ammendolia, Dustin A., Dyer, Diana N., Li, Ren, Brunen, Diede, van Rijn, Jorik M., Huang, Ju, Czuczman, Mark A., Cemma, Marija A., Won, Amy M., Yip, Christopher M., Xavier, Ramnik J., MacDuff, Donna A., Reggiori, Fulvio, Debnath, Jayanta, Yoshimori, Tamotsu, Kim, Peter K., Fairn, Gregory D., Coyaud, Etienne, Raught, Brian, Muise, Aleixo M., Higgins, Darren E., and Brumell, John H.

Published
2018
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43. Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

Author

Serra, Eva Gonçalves, Schwerd, Tobias, Moutsianas, Loukas, Cavounidis, Athena, Fachal, Laura, Pandey, Sumeet, Kammermeier, Jochen, Croft, Nicholas M., Posovszky, Carsten, Rodrigues, Astor, Russell, Richard K., Barakat, Farah, Auth, Marcus K. H., Heuschkel, Robert, Zilbauer, Matthias, Fyderek, Krzysztof, Braegger, Christian, Travis, Simon P., Satsangi, Jack, Parkes, Miles, Thapar, Nikhil, Ferry, Helen, Matte, Julie C., Gilmour, Kimberly C., Wedrychowicz, Andrzej, Sullivan, Peter, Moore, Carmel, Sambrook, Jennifer, Ouwehand, Willem, Roberts, David, Danesh, John, Baeumler, Toni A., Fulga, Tudor A., Carrami, Eli M., Ahmed, Ahmed, Wilson, Rachel, Barrett, Jeffrey C., Elkadri, Abdul, Griffiths, Anne M., Snapper, Scott B., Shah, Neil, Muise, Aleixo M., Wilson, David C., Uhlig, Holm H., and Anderson, Carl A.

Published
2020
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44. Author Correction: Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice

Author

Wang, Lin, Aschenbrenner, Dominik, Zeng, Zhiyang, Cao, Xiya, Mayr, Daniel, Mehta, Meera, Capitani, Melania, Warner, Neil, Pan, Jie, Wang, Liren, Li, Qi, Zuo, Tao, Cohen-Kedar, Sarit, Lu, Jiawei, Ardy, Rico Chandra, Mulder, Daniel J., Dissanayake, Dilan, Peng, Kaiyue, Huang, Zhiheng, Li, Xiaoqin, Wang, Yuesheng, Wang, Xiaobing, Li, Shuchao, Bullers, Samuel, Gammage, Anís N., Warnatz, Klaus, Schiefer, Ana-Iris, Krivan, Gergely, Goda, Vera, Kahr, Walter H. A., Lemaire, Mathieu, Lu, Chien-Yi, Siddiqui, Iram, Surette, Michael G., Kotlarz, Daniel, Engelhardt, Karin R., Griffin, Helen R., Rottapel, Robert, Decaluwe, Hélène, Laxer, Ronald M., Proietti, Michele, Hambleton, Sophie, Elcombe, Suzanne, Guo, Cong-Hui, Grimbacher, Bodo, Dotan, Iris, Ng, Siew C., Freeman, Spencer A., Snapper, Scott B., Klein, Christoph, Boztug, Kaan, Huang, Ying, Li, Dali, Uhlig, Holm H., and Muise, Aleixo M.

Published
2022
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46. Gut Immunomodulation with Vedolizumab prior to Allogeneic Hematopoietic Stem Cell Transplantation in Pediatric Patients with Inflammatory Bowel Disease

Author

Chopra, Yogi, Acevedo, Karol, Muise, Aleixo, Frost, Karen, Schechter, Tal, Krueger, Joerg, Ali, Muhammad, Chiang, Kuang-Yueh, Kim, Vy Hong-Diep, Grunebaum, Eyal, and Wall, Donna

Abstract

•Vedolizumab prophylaxis in patients with inborn errors of immunity and inflammatory bowel disease undergoing allogeneic HSCT is well tolerated and safe.•All patients engrafted.•No patients developed acute gut graft-versus-host disease.•Early discontinuation within the first 6 months post-HSCT was feasible in all cases.

Published
2024
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48. Outcomes Following Acute Severe Colitis at Initial Presentation: A Multi-centre, Prospective, Paediatric Cohort Study.

Author

Dhaliwal, Jasbir, Tertigas, Dominique, Carman, Nicholas, Lawrence, Sally, Debruyn, Jennifer C, Wine, Eytan, Church, Peter C, Huynh, Hien Q, Rashid, Mohsin, El-Matary, Wael, Deslandres, Colette, Critch, Jeffrey, Ricciuto, Amanda, Carroll, Matthew W, Benchimol, Eric I, Muise, Aleixo, Jacobson, Kevan, Otley, Anthony R, Vallance, Bruce, and Mack, David R

Abstract

Aim To assess contemporary outcomes in children with acute severe ulcerative colitis [ASUC] at initial presentation. Methods Between April 2014 and January 2019, children aged <17 years, with new onset ASUC (Paediatric Ulcerative Colitis Activity Index [PUCAI ≥65) were prospectively followed in a Canadian inception cohort study. 16S rRNA amplicon sequencing captured microbial composition of baseline faecal samples. Primary endpoint was corticosteroid-free clinical remission with intact colon at 1 year [PUCAI <10, no steroids ≥4 weeks]. Results Of 379 children with new onset UC/IBD-unclassified, 105 [28%] presented with ASUC (42% male; median [interquartile range; [IQR]) age 14 [11-16] years; extensive colitis in all). Compared with mild UC, gut microbiome of ASUC patients had lower α-diversity, decreased beneficial anaerobes, and increased aerobes; 54 [51%] children were steroid-refractory and given infliximab [87% intensified regimen]. Corticosteroid-free remission at 1 year was achieved by 62 [61%] ASUC cohort (by 34 [63%] steroid-refractory patients, all on biologics; by 28 [55%] steroid responders,13 [25%] on 5- aminosalicylic acid [5-ASA], 5 [10%] on thiopurines, 10 [20%] on biologics). By 1 year, 78 [74%] escalated to infliximab including 24 [47%] steroid-responders failed by 5-ASA and/or thiopurines. In multivariable analysis, clinical predictors for commencing infliximab included hypoalbuminaemia, greater PUCAI, higher age, and male sex. Over 18 months, repeat corticosteroid course[s] and repeat hospitalisation were less likely among steroid-refractory versus -responsive but -dependent patients (adjusted odds ratio [aOR] 0.71 [95% CI 0.57-0.89] and 0.54 [95% CI 0.45-0.66], respectively). Conclusion The majority of children presenting with ASUC escalate therapy to biologics. Predictors of need for advanced therapy may guide selection of optimal maintenance therapy. [ABSTRACT FROM AUTHOR]

Published
2024
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49. NOX1 Regulates Collective and Planktonic Cell Migration: Insights From Patients With Pediatric-Onset IBD and NOX1 Deficiency

Author

Khoshnevisan, Razieh, Anderson, Michael, Babcock, Stephen, Anderson, Sierra, Illig, David, Marquardt, Benjamin, Sherkat, Roya, Schröder, Katrin, Moll, Franziska, Hollizeck, Sebastian, Rohlfs, Meino, Walz, Christoph, Adibi, Peyman, Rezaei, Abbas, Andalib, Alireza, Koletzko, Sibylle, Muise, Aleixo M, Snapper, Scott B, Klein, Christoph, Thiagarajah, Jay R, and Kotlarz, Daniel

Published
2020
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50. Very Early Onset Inflammatory Bowel Disease: A Clinical Approach With a Focus on the Role of Genetics and Underlying Immune Deficiencies

Author

Ouahed, Jodie, Spencer, Elizabeth, Kotlarz, Daniel, Shouval, Dror S, Kowalik, Matthew, Peng, Kaiyue, Field, Michael, Grushkin-Lerner, Leslie, Pai, Sung-Yun, Bousvaros, Athos, Cho, Judy, Argmann, Carmen, Schadt, Eric, Mcgovern, Dermot P B, Mokry, Michal, Nieuwenhuis, Edward, Clevers, Hans, Powrie, Fiona, Uhlig, Holm, Klein, Christoph, Muise, Aleixo, Dubinsky, Marla, and Snapper, Scott B

Published
2020
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