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Crohn Disease: HELP
Articles from Atlanta
Based on 114 articles published since 2009

These are the 114 published articles about Crohn Disease that originated from Atlanta during 2009-2019.
+ Citations + Abstracts
Pages: 1 · 2 · 3 · 4 · 5
1 Guideline Consensus Recommendations for Evaluation, Interpretation, and Utilization of Computed Tomography and Magnetic Resonance Enterography in Patients With Small Bowel Crohn's Disease. 2018

Bruining, David H / Zimmermann, Ellen M / Loftus, Edward V / Sandborn, William J / Sauer, Cary G / Strong, Scott A / Anonymous2630933. ·Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, Minnesota. · Department of Gastroenterology, University of Florida, Gainesville, Florida. · Division of Gastroenterology, University of California San Diego, San Diego, California. · Division of Pediatric Gastroenterology, Emory University, Children's Healthcare of Atlanta, Atlanta, Georgia. · Division of GI Surgery, Northwestern Medicine, Chicago, Illinois. ·Gastroenterology · Pubmed #29329905.

ABSTRACT: Computed tomography and magnetic resonance enterography have become routine small bowel imaging tests to evaluate patients with established or suspected Crohn's disease, but the interpretation and use of these imaging modalities can vary widely. A shared understanding of imaging findings, nomenclature, and utilization will improve the utility of these imaging techniques to guide treatment options, as well as assess for treatment response and complications. Representatives from the Society of Abdominal Radiology Crohn's Disease-Focused Panel, the Society of Pediatric Radiology, the American Gastroenterological Association, and other experts, systematically evaluated evidence for imaging findings associated with small bowel Crohn's disease enteric inflammation and established recommendations for the evaluation, interpretation, and use of computed tomography and magnetic resonance enterography in small bowel Crohn's disease. This work makes recommendations for imaging findings that indicate small bowel Crohn's disease, how inflammatory small bowel Crohn's disease and its complications should be described, elucidates potential extra-enteric findings that may be seen at imaging, and recommends that cross-sectional enterography should be performed at diagnosis of Crohn's disease and considered for small bowel Crohn's disease monitoring paradigms. A useful morphologic construct describing how imaging findings evolve with disease progression and response is described, and standard impressions for radiologic reports that convey meaningful information to gastroenterologists and surgeons are presented.

2 Editorial Response to Biologics Delay Progression of Crohn's Disease in Children but Not Early Surgery. 2018

Ballengee, Cortney R / Kugathasan, Subra. ·Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia. ·Clin Gastroenterol Hepatol · Pubmed #29775795.

ABSTRACT: -- No abstract --

3 Editorial Not so Splendid for the Gut Microbiota. 2018

Chassaing, Benoit / Gewirtz, Andrew T. ·Center for Inflammation, Immunity and Infection, Institute for Biomedical Sciences. · Neuroscience Institute, Georgia State University, Atlanta, Georgia. ·Inflamm Bowel Dis · Pubmed #29554295.

ABSTRACT: A critically important new study by leading inflammatory bowel disease (IBD) researcher Fabio Cominelli and colleagues reveals that, in mice, the artificial sweetener SPLENDA deleteriously impacts the intestinal microbiota in a manner that promotes Crohn's-type disease in genetically susceptible hosts. These results suggest that consumption of this product may be a risk factor for IBD.

4 Editorial Nanotherapeutics for the treatment of inflammatory bowel disease. 2017

Chen, Qiubing / Xiao, Bo / Merlin, Didier. ·a Institute for Clean Energy and Advanced Materials, Faculty of Materials and Energy , Southwest University , Chongqing , P. R. China. · b Institute for Biomedical Sciences, Center for Diagnostics and Therapeutics , Georgia State University , Atlanta , GA , USA. · c Atlanta Veterans Affairs Medical Center , Decatur , GA , USA ​. ·Expert Rev Gastroenterol Hepatol · Pubmed #28317404.

ABSTRACT: -- No abstract --

5 Review Contraceptive Considerations for Women with Gastrointestinal Disorders. 2017

Sridhar, Aparna / Cwiak, Carrie A / Kaunitz, Andrew M / Allen, Rebecca H. ·The Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, 10833 Le Conte Ave CHS 22-229, Los Angeles, CA, 90095, USA. · The Department of Gynecology and Obstetrics, Emory University School of Medicine, 49 Jesse Hill Jr. Drive SE, Atlanta, GA, 30303, USA. · Department of Obstetrics and Gynecology, University of Florida College of Medicine-Jacksonville, 653-1 W. 8th Street, Jacksonville, FL, 32209, USA. · The Department of Obstetrics and Gynecology, Warren Alpert Medical School of Brown University, 101 Dudley Street, Providence, RI, 02905, USA. rhallen@wihri.org. ·Dig Dis Sci · Pubmed #27885460.

ABSTRACT: Gastroenterologists are in a unique position to assist women with chronic gastrointestinal disorders in order to optimize their health prior to pregnancy. Women, whether with chronic conditions or not, and their infants are more likely to be healthy when pregnancies are planned. Achieving a planned pregnancy at the ideal time or preventing pregnancy altogether requires the use of appropriate contraceptives. There is a broad range of contraceptives available to women in the USA, and the majority of women with digestive diseases will be candidates for all effective methods. Guidance from the Centers for Disease Control and Prevention aids clinicians in prescribing appropriate contraceptives to women with medical disorders. This review will focus on contraception for women with inflammatory bowel disease and chronic liver disease, including liver transplant.

6 Review Approach to a Child with Colitis. 2016

Palle, Sirish K / Prasad, Mahadev / Kugathasan, Subra. ·Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA. · Children's Healthcare of Atlanta, Atlanta, GA, USA. · Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA. skugath@emory.edu. · Children's Healthcare of Atlanta, Atlanta, GA, USA. skugath@emory.edu. · Division of Pediatric Gastroenterology, Department of Pediatrics, Emory University School of Medicine, 2015 Upper gate Drive, Room 248, Atlanta, GA, 30322, USA. skugath@emory.edu. ·Indian J Pediatr · Pubmed #27080713.

ABSTRACT: In this review, the authors discuss the etiology, pathogenesis, and clinical presentations of colitis in children, and provide current recommendations for the approach to a child with colitis. In addition, they discuss in detail one of the important and emerging causes of chronic colitis in children; inflammatory bowel disease (IBD). Diagnostic and management approaches to colitis in children vary considerably based on several factors, including if the colitis is acute in onset or chronic, the age of the child, and the geographical region of the affected child. Broader classification or differential diagnosis of colitis falls under infectious, inflammatory, allergic, and less commonly, immune-mediated and ischemic colitis. Recent epidemiologic reports have elucidated a shift in our understanding of ethnicities and geographic regions affected by IBD. The incidence and prevalence of IBD has been steadily increasing in developing countries, including South-East Asia/India. Also, the risk of developing IBD among the second-generation South-Asians immigrants has greatly increased, with rates approaching those in the Western country to which they immigrated. Current research is focusing on genetic, environmental, and dietary factors to understand the increased incidence of IBD in developing countries and immigrants from developing nations.

7 Review Biosimilars in Crohn's Disease and Ulcerative Colitis. 2016

Wolf, Douglas C. ·Atlanta Gastroenterology Associates, Atlanta, GA. ·Inflamm Bowel Dis · Pubmed #26933749.

ABSTRACT: -- No abstract --

8 Review Review of pulmonary adverse effects of infliximab therapy in Crohn's disease. 2016

Patel, Dhiren / Madani, Shailender / Patel, Shraddha / Guglani, Lokesh. ·a Pediatric Gastroenterology, The Carman and Ann Adams Department of Pediatrics, Children's Hospital of Michigan , Wayne State University School of Medicine , Detroit , MI , USA. · b Department of Emergency Medicine , Wayne State University , Detroit , MI , USA. · c Pulmonology, Allergy/Immunology, Cystic Fibrosis and Sleep Medicine (PACS) Division, Department of Pediatrics, Children's Healthcare of Atlanta , Emory University School of Medicine , Atlanta , GA , USA. ·Expert Opin Drug Saf · Pubmed #26923135.

ABSTRACT: INTRODUCTION: Anti-inflammatory therapies are the mainstay for the treatment of inflammatory bowel disease (IBD) in children and adults, including biologics such as infliximab. While there is extensive literature on the general side effects of therapy with infliximab, the data on pulmonary adverse effects remains sparse. This article summarizes the literature related to pulmonary adverse effects of Infliximab therapy in Crohn's Disease. AREA COVERED: Published reports of specific pulmonary complications during ongoing therapy with infliximab in patients with IBD were included in the review. A wide variety of infectious and non-infectious complications have been reported with the use of infliximab therapy in IBD. EXPERT OPINION: It is important to carefully evaluate respiratory signs and symptoms in patients with IBD, especially those receiving biologic therapies. Besides infectious complications, other non-infectious pulmonary adverse effects associated with the use of infliximab should be considered in patients with IBD. Further, it is important to differentiate primary pulmonary involvement of IBD from pulmonary adverse effects of infliximab therapy. An algorithm for assessing patients with IBD presenting with pulmonary symptoms is provided as a guide for clinicians for medical decision-making.

9 Review Genetics of Inflammatory Bowel Diseases. 2015

McGovern, Dermot P B / Kugathasan, Subra / Cho, Judy H. ·F. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Medical Genetics Research Institute, Cedars-Sinai Medical Center, Los Angeles, California. · Department of Pediatrics and Human Genetics, Emory University School of Medicine, and Children's Healthcare of Atlanta, Atlanta, Georgia. · Departments of Genetics and Medicine, Division of Gastroenterology, Icahn School of Medicine at Mount Sinai, New York, New York. Electronic address: Judy.Cho@mssm.edu. ·Gastroenterology · Pubmed #26255561.

ABSTRACT: In this review, we provide an update on genome-wide association studies (GWAS) in inflammatory bowel disease (IBD). In addition, we summarize progress in defining the functional consequences of associated alleles for coding and noncoding genetic variation. In the small minority of loci where major association signals correspond to nonsynonymous variation, we summarize studies defining their functional effects and implications for therapeutic targeting. Importantly, the large majority of GWAS-associated loci involve noncoding variation, many of which modulate levels of gene expression. Recent expression quantitative trait loci (eQTL) studies have established that the expression of most human genes is regulated by noncoding genetic variations. Significant advances in defining the epigenetic landscape have demonstrated that IBD GWAS signals are highly enriched within cell-specific active enhancer marks. Studies in European ancestry populations have dominated the landscape of IBD genetics studies, but increasingly, studies in Asian and African-American populations are being reported. Common variation accounts for only a modest fraction of the predicted heritability and the role of rare genetic variation of higher effects (ie, odds ratios markedly deviating from 1) is increasingly being identified through sequencing efforts. These sequencing studies have been particularly productive in more severe very early onset cases. A major challenge in IBD genetics will be harnessing the vast array of genetic discovery for clinical utility through emerging precision medical initiatives. In this article, we discuss the rapidly evolving area of direct-to-consumer genetic testing and the current utility of clinical exome sequencing, especially in very early onset, severe IBD cases. We summarize recent progress in the pharmacogenetics of IBD with respect to partitioning patient responses to anti-TNF and thiopurine therapies. Highly collaborative studies across research centers and across subspecialties and disciplines will be required to fully realize the promise of genetic discovery in IBD.

10 Review Colorectal emergencies and related complications: a comprehensive imaging review--imaging of colitis and complications. 2014

Maddu, Kiran K / Mittal, Pardeep / Shuaib, Waqas / Tewari, Anuj / Ibraheem, Oluwayemisi / Khosa, Faisal. ·1 Division of Emergency Radiology, Department of Radiology and Imaging Sciences, Emory University Midtown Hospital, 550 Peachtree St NE, Atlanta, GA 30308. ·AJR Am J Roentgenol · Pubmed #25415697.

ABSTRACT: OBJECTIVE: Colorectal emergencies are a common presentation in the emergency medicine setting and their timely diagnosis plays a crucial role in avoiding dreaded complications. The quintessential role of a radiologist lies in identifying the cause, narrowing the differential diagnosis according to imaging features, and, most importantly, identifying the associated complications. CONCLUSION: This review focuses on imaging features of the spectrum of colitides and the complications related to colitides.

11 Review Use of the star sign to diagnose internal fistulas in pediatric patients with penetrating Crohn disease by MR enterography. 2014

Braithwaite, Kiery A / Alazraki, Adina L. ·Department of Radiology & Imaging Sciences, Children's Healthcare of Atlanta, Emory University, 1405 Clifton Road N.E., Atlanta, GA, 30322, USA, kiery.braithwaite@choa.org. ·Pediatr Radiol · Pubmed #24535118.

ABSTRACT: Development of internal fistula due to extramural spread of inflammatory bowel disease is a characteristic feature of penetrating disease in patients with Crohn disease. The "star sign" is a radiological finding of internal fistula that has previously been described in the gastroenterology literature in adult Crohn disease patients undergoing MR enteroclysis. The goal of this paper is to review the clinical and imaging features of penetrating disease in pediatric Crohn disease patients, highlighting the star sign as a useful diagnostic tool for diagnosing internal fistula in children by MR enterography. The recognition of penetrating complications by MR imaging can have important therapeutic and prognostic implications.

12 Review Crohn's disease: a review of treatment options and current research. 2013

Bandzar, Sean / Gupta, Shabnam / Platt, Manu O. ·Georgia Regents University, Medical College of Georgia, Augusta, GA, United States. Electronic address: sbandzar@gru.edu. · Emory University School of Medicine, Atlanta, GA, United States. · Georgia Institute of Technology, Coulter Department of Biomedical Engineering, Atlanta, GA, United States. ·Cell Immunol · Pubmed #24321565.

ABSTRACT: Crohn's disease is an autoimmune disorder that affects nearly 1.4 million Americans. The etiology of Crohn's disease is not completely understood, however, research has suggested a genetic link. There is currently no known cure for Crohn's disease and, as a result, most government-funded research is being conducted to increase the quality of life of afflicted patients (i.e. reducing chronic inflammation and alleviating growth impairment in pediatric patients). A number of treatment options are available including an alpha-4 integrin inhibitor and several TNF-alpha inhibitors. Furthermore, research is being conducted on several alternative treatment options to help understand exactly which cellular mechanisms (i.e. inducing apoptosis in leukocytes) are required for clinical efficacy. This review seeks to chronicle the current available treatment options for patients affected by Crohn's disease to aid in understanding potential cellular mechanistic requirements for an efficacious drug, and shed light on potential options for future treatment.

13 Review Surgical management of Crohn's disease. 2013

Shaffer, Virginia Oliva / Wexner, Steven D. ·Division of General and GI Surgery, Colorectal Surgery, Emory University, 1365 Clifton Rd. NE, Suite 3300, Atlanta, GA 30322, USA. virginia.o.shaffer@emory.edu ·Langenbecks Arch Surg · Pubmed #22350642.

ABSTRACT: INTRODUCTION: Crohn's disease is an inflammatory bowel disease that can affect the entire gastrointestinal tract. It is chronic and incurable, and the mainstay of therapy is medical management with surgical intervention as complications arise. Surgery is required in approximately 70% of patients with Crohn's disease. Because repeat interventions are often needed, these patients may benefit from bowel-sparing techniques and minimally invasive approaches. Various bowel-sparing techniques, including strictureplasty, can be applied to reduce the risk of short-bowel syndrome. METHODS: A review of the available literature using the PubMed search engine was undertaken to compile data on the surgical treatment of Crohn's disease. RESULTS AND CONCLUSION: Data support the use of laparoscopy in treating Crohn's disease, although the potential technical challenges in these settings mandate appropriate prerequisite surgical expertise.

14 Review Radiation exposure in children with inflammatory bowel disease. 2012

Sauer, Cary G. ·Emory University School of Medicine, Children's Healthcare of Atlanta, Atlanta, Georgia 30322, USA. csauer@emory.edu ·Curr Opin Pediatr · Pubmed #22935753.

ABSTRACT: PURPOSE OF REVIEW: Radiation exposure due to medical imaging has grown exponentially over the past two decades and the awareness has increased in the last few years with a number of articles in scientific publications and lay press. Radiation increases the risk of cancer and is particularly a concern in children. Limiting radiation exposure is most important in children, who are more sensitive to radiation, and specifically in children with a chronic lifelong disease such as inflammatory bowel disease (IBD). RECENT FINDINGS: Children with IBD and specifically Crohn's disease demonstrate high exposure to ionizing radiation due to medical imaging. The yearly rate of medical imaging radiation exposure may seem small at approximately 3-5 mSv/year, which is only slightly higher than typical background radiation (3 mSv/year). However, this extra yearly radiation exposure to children with a lifelong chronic disease may increase the risk of cancer. Additionally, recent literature suggests that some children with more severe disease are exposed to high radiation doses within the first few years of diagnosis. Imaging modalities that do not utilize radiation, such as MRI and ultrasonography, have demonstrated utility in diagnosing and managing IBD and are particularly important for children. SUMMARY: Pediatricians caring for children with chronic diseases should consider radiation exposure and limit exposure when possible. Future quality outcome benchmarks should include limiting exposure to radiation in children with chronic diseases.

15 Review Pediatric inflammatory bowel disease: highlighting pediatric differences in IBD. 2009

Sauer, Cary G / Kugathasan, Subra. ·Department of Pediatrics, Emory University School of Medicine, Emory Children's Center, 2015 Uppergate Drive, Atlanta, GA 30322, USA. ·Gastroenterol Clin North Am · Pubmed #19913205.

ABSTRACT: Inflammatory bowel disease (IBD) includes Crohn disease and ulcerative colitis, and is often diagnosed in late childhood and early adulthood. What determines the age of onset remains unexplained. Early onset may represent the "pure" form of the disease process and hence may hold secrets of the initiating events of IBD pathogenesis. Clinical scientists continue to focus on pediatric IBD because it may shed light on the cause and prevention of this lifelong disease. Over the last decade, data in pediatric IBD studies have demonstrated many similarities and differences between pediatric and adult onset, which continue to add pieces to an increasingly complex IBD puzzle. The mechanism responsible for these similarities and differences remains unanswered. This article discusses clinically relevant epidemiology and treatment aspects of pediatric IBD, with special focus on similarities and differences in pediatric and adult IBD. Evidence-based treatment algorithms, with special focus on pediatric studies and care for children, are also highlighted.

16 Clinical Trial Efficacy of Ustekinumab for Inducing Endoscopic Healing in Patients With Crohn's Disease. 2018

Rutgeerts, Paul / Gasink, Christopher / Chan, Daphne / Lang, Yinghua / Pollack, Paul / Colombel, Jean-Frederic / Wolf, Douglas C / Jacobstein, Douglas / Johanns, Jewel / Szapary, Philippe / Adedokun, Omoniyi J / Feagan, Brian G / Sandborn, William J. ·University Hospital Gasthuisberg, Leuven, Belgium. Electronic address: Paul.Rutgeerts@uz.kuleuven.ac.be. · Janssen Research & Development, LLC, Spring House, Pennsylvania. · The Dr Henry D. Janowitz Division of Gastroenterology, Icahn School of Medicine at Mount Sinai, New York, New York. · Atlanta Gastroenterology Associates, Atlanta, Georgia. · Robarts Clinical Trials, Robarts Research Institute, Western University, London, Ontario, Canada. · University of California San Diego, La Jolla, California. ·Gastroenterology · Pubmed #29909019.

ABSTRACT: BACKGROUND & AIMS: We evaluated the ability of ustekinumab, a monoclonal antibody against the p40 subunit of interleukins 12 and 23, to induce endoscopic healing in patients with moderate to severe Crohn's disease (CD). METHODS: We performed an endoscopy substudy of 334 patients with moderate to severe CD participating in 3 randomized controlled phase 3 studies to determine the safety and efficacy of ustekinumab induction and maintenance therapy. All patients underwent colonoscopy at baseline and week 8 of the induction studies and at week 44 of the maintenance study; all colonoscopies were assessed by a blinded central reader. During the induction studies, patients were randomly assigned to groups given intravenous ustekinumab (130 mg or 6 mg/kg) or placebo. At the baseline time point of the maintenance study (week 8 of the induction studies), patients with a clinical response to ustekinumab were randomly assigned to groups given subcutaneous ustekinumab (90 mg every 12 weeks or 8 weeks) or placebo. Additional maintenance analysis populations were patients who did not respond to ustekinumab or placebo during the induction studies, and patients who responded to placebo during the induction studies; we performed a post-hoc pooled analysis of randomly assigned and non-randomly assigned patients of the maintenance study. We analyzed data from patients with an ulcer in at least 1 segment at baseline of the induction studies. The primary end point was change in the Simplified Endoscopic Activity Score for Crohn's Disease (SES-CD), from baseline, at week 8. We also assessed the efficacy of maintenance therapy. RESULTS: Patients given ustekinumab had a greater reduction in SES-CD from the induction baseline time point until week 8 than placebo (reduction of 2.8 in patients given ustekinumab vs a reduction of 0.7 points in patients given placebo; P = .012). Results were similar among patients in different induction studies and patients given different doses of ustekinumab. At week 44, reductions in the SES-CD from the induction baseline were greater in patients given ustekinumab (for combined groups, a reduction of 2.5; P = .176 and for every 8 weeks, a reduction of 3.1; P = .107) than patients given placebo (reduction of 1.9 points). Maintenance results were similar for the larger pooled post-hoc analysis. CONCLUSIONS: In an analysis of data from 3 trials of patients with moderate to severe CD, ustekinumab (intravenous induction and subcutaneous maintenance) reduces SES-CD compared with placebo. We observed significant reductions in endoscopic disease activity at week 8 of induction therapy with ustekinumab. (ClinicalTrials.gov numbers, NCT01369329, NCT01369342, and NCT01369355).

17 Clinical Trial Enteric-coated budesonide for the induction and maintenance of remission of Crohn's disease in children. 2017

Cohen, Stanley A / Aloi, Marina / Arumugam, Ramalingam / Baker, Robert / Bax, Kevin / Kierkuś, Jaroslaw / Koletzko, Sibylle / Lionetti, Paolo / Persson, Tore / Eklund, Stefan. ·a Children's Center for Digestive Healthcare , Atlanta , GA , USA. · b Sapienza University of Rome , Department of Pediatrics, Gastroenterology, and Liver Unit , Rome , Italy. · c Minnesota Gastroenterology PA , Saint Paul , MN , USA. · d University Pediatric Associates Inc., Digestive Diseases and Nutrition Center , Buffalo, NY , USA. · e Children's Hospital of Western Ontario, Schulich School of Medicine, Department of Pediatrics , Western University , London , ON , Canada. · f Department of Gastroenterology , Hepatology, and Feeding Disorders, Instytut Pomnik Centrum Zdrowia Dziecka , Warsaw , Poland. · g Department of Pediatric Gastroenterology , Dr. von Hauner Children's Hospital, Ludwig Maximilians University , Munich , Germany. · h Department of Gastroenterology and Nutrition , Meyer Children's Hospital , Florence , Italy. · i AstraZeneca Gothenburg , Mölndal , Sweden. ·Curr Med Res Opin · Pubmed #28420280.

ABSTRACT: OBJECTIVE: These studies evaluated the safety and efficacy of enteric-coated budesonide for the induction and maintenance of remission of mild-to-moderate Crohn's disease (CD) in children. METHODS: The consecutive, multicenter, open-label, non-comparative studies enrolled patients aged 6-17 years. In the induction study, patients with active CD of the ileum and/or ascending colon received budesonide 9 mg or 6 mg once daily for 8 weeks; in the maintenance study, patients in remission received budesonide 6 mg once daily for 12 weeks. The primary objective was assessment of safety, including glucocorticosteroid-related side effects and serum cortisol levels. Efficacy was assessed using the Pediatric Crohn's Disease Activity Index (PCDAI), and health-related quality of life (HRQoL) using the IMPACT-III questionnaire. RESULTS: In the induction study (n = 108), most adverse events were related to CD, commonly abdominal pain; possible glucocorticosteroid-related effects included acne and increased appetite but without significant weight gain. Subnormal morning cortisol levels were observed in 32 of 103 patients after 8 weeks. Budesonide reduced disease activity from baseline (mean ± standard deviation, 9.1 ± 8.5 vs. 19.1 ± 10.1, p < .001) with 58.1% of patients reaching remission (PCDAI <10); HRQoL improved (p < .001). In the maintenance study (n = 50), mean disease activity worsened (p = .047) with HRQoL unchanged (p = .33). CONCLUSIONS: Budesonide treatment was generally well tolerated, although the potential for adrenal suppression was noted. Budesonide was effective for induction of remission in children with mild-to-moderate CD but not for maintaining remission (ClinicalTrials.gov identifiers: NCT01444092, NCT01453946).

18 Clinical Trial Prediction of complicated disease course for children newly diagnosed with Crohn's disease: a multicentre inception cohort study. 2017

Kugathasan, Subra / Denson, Lee A / Walters, Thomas D / Kim, Mi-Ok / Marigorta, Urko M / Schirmer, Melanie / Mondal, Kajari / Liu, Chunyan / Griffiths, Anne / Noe, Joshua D / Crandall, Wallace V / Snapper, Scott / Rabizadeh, Shervin / Rosh, Joel R / Shapiro, Jason M / Guthery, Stephen / Mack, David R / Kellermayer, Richard / Kappelman, Michael D / Steiner, Steven / Moulton, Dedrick E / Keljo, David / Cohen, Stanley / Oliva-Hemker, Maria / Heyman, Melvin B / Otley, Anthony R / Baker, Susan S / Evans, Jonathan S / Kirschner, Barbara S / Patel, Ashish S / Ziring, David / Trapnell, Bruce C / Sylvester, Francisco A / Stephens, Michael C / Baldassano, Robert N / Markowitz, James F / Cho, Judy / Xavier, Ramnik J / Huttenhower, Curtis / Aronow, Bruce J / Gibson, Greg / Hyams, Jeffrey S / Dubinsky, Marla C. ·Division of Pediatric Gastroenterology, Emory University School of Medicine, Atlanta, GA, USA; Children's Healthcare of Atlanta, Atlanta, GA, USA. Electronic address: skugath@emory.edu. · Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA. · Division of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada. · Division of Biostatistics and Epidemiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA. · Center for Integrative Genomics, Georgia Institute of Technology, Atlanta, GA, USA. · The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Department of Biostatistics, Harvard T H Chan School of Public Health, Boston, MA, USA. · Division of Pediatric Gastroenterology, Emory University School of Medicine, Atlanta, GA, USA. · Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Medical College of Wisconsin, Milwaukee, WI, USA. · Department of Pediatric Gastroenterology, Nationwide Children's Hospital, Ohio State University College of Medicine, Columbus, OH, USA. · Department of Gastroenterology and Nutrition, Boston Children's Hospital, Boston, MA, USA. · Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA. · Department of Pediatrics, Goryeb Children's Hospital, Morristown, NJ, USA. · Department of Pediatrics, Hasbro Children's Hospital, Providence, RI, USA. · Department of Pediatrics, University of Utah, Salt Lake City, UT, USA. · Department of Pediatrics, Children's Hospital of Eastern Ontario IBD Centre and University of Ottawa, ON, Canada. · Section of Pediatric Gastroenterology, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, USA. · Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. · Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA. · Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN, USA. · Department of Gastroenterology, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA. · Children's Healthcare of Atlanta, Atlanta, GA, USA; Children's Center for Digestive Health Care, Atlanta, GA, USA. · Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA. · Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA. · Department of Pediatrics, Dalhousie University, Halifax, NS, Canada. · Department of Digestive Diseases and Nutrition Center, University at Buffalo, Buffalo, NY, USA. · Department of Pediatrics, Nemours Children's Specialty Care, Jacksonville, FL, USA. · Department of Pediatrics, University of Chicago, Chicago, IL, USA. · Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, USA. · Department of Pediatrics, UCLA David Geffen School of Medicine, Los Angeles, CA, USA. · Division of Pulmonary Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA. · Department of Pediatric Gastroenterology, Mayo Clinic, Rochester, MN, USA. · Department of Pediatrics, University of Pennsylvania, Philadelphia, PA, USA. · Department of Pediatrics, Northwell Health, New York, NY, USA. · Department of Pediatrics, Mount Sinai Hospital, New York, NY, USA. · The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Center for Computational and Integrative Biology, Gastrointestinal Unit and Center for the Study of Inflammatory Bowel Disease, Massachusetts General Hospital, Boston, MA, USA; Center for Microbiome Informatics and Therapeutics, Massachusetts Institute of Technology, Cambridge, MA, USA. · Division of Biomedical Informatics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA. · Division of Digestive Diseases, Hepatology, and Nutrition, Connecticut Children's Medical Center, Hartford, CT, USA. ·Lancet · Pubmed #28259484.

ABSTRACT: BACKGROUND: Stricturing and penetrating complications account for substantial morbidity and health-care costs in paediatric and adult onset Crohn's disease. Validated models to predict risk for complications are not available, and the effect of treatment on risk is unknown. METHODS: We did a prospective inception cohort study of paediatric patients with newly diagnosed Crohn's disease at 28 sites in the USA and Canada. Genotypes, antimicrobial serologies, ileal gene expression, and ileal, rectal, and faecal microbiota were assessed. A competing-risk model for disease complications was derived and validated in independent groups. Propensity-score matching tested the effect of anti-tumour necrosis factor α (TNFα) therapy exposure within 90 days of diagnosis on complication risk. FINDINGS: Between Nov 1, 2008, and June 30, 2012, we enrolled 913 patients, 78 (9%) of whom experienced Crohn's disease complications. The validated competing-risk model included age, race, disease location, and antimicrobial serologies and provided a sensitivity of 66% (95% CI 51-82) and specificity of 63% (55-71), with a negative predictive value of 95% (94-97). Patients who received early anti-TNFα therapy were less likely to have penetrating complications (hazard ratio [HR] 0·30, 95% CI 0·10-0·89; p=0·0296) but not stricturing complication (1·13, 0·51-2·51; 0·76) than were those who did not receive early anti-TNFα therapy. Ruminococcus was implicated in stricturing complications and Veillonella in penetrating complications. Ileal genes controlling extracellular matrix production were upregulated at diagnosis, and this gene signature was associated with stricturing in the risk model (HR 1·70, 95% CI 1·12-2·57; p=0·0120). When this gene signature was included, the model's specificity improved to 71%. INTERPRETATION: Our findings support the usefulness of risk stratification of paediatric patients with Crohn's disease at diagnosis, and selection of anti-TNFα therapy. FUNDING: Crohn's and Colitis Foundation of America, Cincinnati Children's Hospital Research Foundation Digestive Health Center.

19 Clinical Trial Use of Reticulocyte Hemoglobin Content in the Assessment of Iron Deficiency in Children With Inflammatory Bowel Disease. 2017

Syed, Sana / Kugathasan, Subra / Kumar, Archana / Prince, Jarod / Schoen, Bess T / McCracken, Courtney / Ziegler, Thomas R / Suchdev, Parminder S. ·*Department of Pediatrics, Emory University School of Medicine †Children's Healthcare of Atlanta ‡Department of Medicine, Division of Endocrinology, Metabolism and Lipids, Emory University School of Medicine, Atlanta, GA. ·J Pediatr Gastroenterol Nutr · Pubmed #27429427.

ABSTRACT: BACKGROUND: Iron deficiency and anemia affect up to 50% to 75% of patients with inflammatory bowel disease (IBD). Iron deficiency in IBD may be difficult to diagnose because of the effect of inflammation on iron status biomarkers. Thus, there is a need for better methods to accurately determine iron status in IBD. OBJECTIVE: The aim of the study was to investigate the association of inflammation with hemoglobin content of reticulocytes (CHr) and the utility of CHr in comparison to standard iron biomarkers. METHODS: We conducted a cross-sectional study of children with IBD. Iron biomarkers (CHr, ferritin, soluble transferrin receptor [sTfR], hepcidin, hemoglobin) were measured along with systemic biomarkers of inflammation (C-reactive protein, α1-acid glycoprotein]. Spearman correlations were used to evaluate the relation of inflammation and iron biomarkers. The criterion standard for iron deficiency was defined as inflammation-corrected ferritin <15 μg/L or sTfR >8.3 mg/L. Receiver operating characteristic curves were used to estimate the prognostic values of all iron biomarkers to identify patients with iron deficiency. RESULTS: We analyzed data in 62 children ages 5 to 18 years. Sixty-nine percent of our subjects had Crohn disease and 31% had ulcerative colitis, of which 42% were girls and 53% African American. The prevalence of anemia was 32%, of iron deficiency was 52% using ferritin <15 μg/L or sTfR >8.3 mg/L, 39% using red blood cell distribution width of >14.5%, 26% using body iron stores of <0 mg/kg body weight, 25% using CHr of <28 pg, and 11% using mean corpuscular volume of <75 fL/cell. The prevalence of elevated CRP or AGP was 48%. After correcting ferritin and sTfR levels for inflammation, the prevalence of iron deficiency was 68%. CHr was correlated with C-reactive protein (rs -0.44, P < 0.001) and α1-acid glycoprotein (rs -0.37, P < 0.05). The optimal prognostic value for inflammation-adjusted CHr to predict iron deficiency was 34 pg (area under the receiver operating characteristic of 0.70), with 88% sensitivity and 30% specificity. CONCLUSIONS: Iron deficiency and anemia are common in this pediatric IBD cohort. All explored iron biomarkers, including CHr, were affected by inflammation and should be adjusted. A single iron biomarker is unlikely to best predict iron deficiency in pediatric IBD. Iron intervention studies are needed to examine the response of iron biomarkers to iron supplementation in the setting of inflammation.

20 Clinical Trial Ustekinumab as Induction and Maintenance Therapy for Crohn's Disease. 2016

Feagan, Brian G / Sandborn, William J / Gasink, Christopher / Jacobstein, Douglas / Lang, Yinghua / Friedman, Joshua R / Blank, Marion A / Johanns, Jewel / Gao, Long-Long / Miao, Ye / Adedokun, Omoniyi J / Sands, Bruce E / Hanauer, Stephen B / Vermeire, Severine / Targan, Stephan / Ghosh, Subrata / de Villiers, Willem J / Colombel, Jean-Frédéric / Tulassay, Zsolt / Seidler, Ursula / Salzberg, Bruce A / Desreumaux, Pierre / Lee, Scott D / Loftus, Edward V / Dieleman, Levinus A / Katz, Seymour / Rutgeerts, Paul / Anonymous6951303. ·From Robarts Clinical Trials, Robarts Research Institute, Western University, London, ON (B.G.F.), University of Calgary, Calgary, AB (S.G.), and the Division of Gastroenterology and CEGIIR, University of Alberta, Edmonton (L.A.D.) - all in Canada · University of California, San Diego, La Jolla (W.J.S.), and Cedars-Sinai Medical Center, Los Angeles (S.T.) - both in California · Janssen Research and Development, Spring House (C.G., D.J., Y.L., J.R.F., J.J., L.-L.G., Y.M., O.J.A.), and Janssen Scientific Affairs, Horsham (M.A.B.) - both in Pennsylvania · the Dr. Henry D. Janowitz Division of Gastroenterology, Icahn School of Medicine at Mount Sinai (B.E.S., J.-F.C.), and New York University School of Medicine (S.K.) - both in New York · Feinberg School of Medicine, Northwestern University, Chicago (S.B.H.) · University Hospitals Leuven, Leuven, Belgium (S.V., P.R.) · Stellenbosch University, Stellenbosch, South Africa (W.J.V.) · Semmelweis University of Budapest, Budapest, Hungary (Z.T.) · the Department of Gastroenterology, Hannover Medical School, Hannover, Germany (U.S.) · Atlanta Gastroenterology Specialists, Atlanta (B.A.S.) · Hôpital Claude Huriez, Lille, France (P.D.) · University of Washington Medical Center, Seattle (S.D.L.) · and the Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN (E.V.L.). ·N Engl J Med · Pubmed #27959607.

ABSTRACT: BACKGROUND: Ustekinumab, a monoclonal antibody to the p40 subunit of interleukin-12 and interleukin-23, was evaluated as an intravenous induction therapy in two populations with moderately to severely active Crohn's disease. Ustekinumab was also evaluated as subcutaneous maintenance therapy. METHODS: We randomly assigned patients to receive a single intravenous dose of ustekinumab (either 130 mg or approximately 6 mg per kilogram of body weight) or placebo in two induction trials. The UNITI-1 trial included 741 patients who met the criteria for primary or secondary nonresponse to tumor necrosis factor (TNF) antagonists or had unacceptable side effects. The UNITI-2 trial included 628 patients in whom conventional therapy failed or unacceptable side effects occurred. Patients who completed these induction trials then participated in IM-UNITI, in which the 397 patients who had a response to ustekinumab were randomly assigned to receive subcutaneous maintenance injections of 90 mg of ustekinumab (either every 8 weeks or every 12 weeks) or placebo. The primary end point for the induction trials was a clinical response at week 6 (defined as a decrease from baseline in the Crohn's Disease Activity Index [CDAI] score of ≥100 points or a CDAI score <150). The primary end point for the maintenance trial was remission at week 44 (CDAI score <150). RESULTS: The rates of response at week 6 among patients receiving intravenous ustekinumab at a dose of either 130 mg or approximately 6 mg per kilogram were significantly higher than the rates among patients receiving placebo (in UNITI-1, 34.3%, 33.7%, and 21.5%, respectively, with P≤0.003 for both comparisons with placebo; in UNITI-2, 51.7%, 55.5%, and 28.7%, respectively, with P<0.001 for both doses). In the groups receiving maintenance doses of ustekinumab every 8 weeks or every 12 weeks, 53.1% and 48.8%, respectively, were in remission at week 44, as compared with 35.9% of those receiving placebo (P=0.005 and P=0.04, respectively). Within each trial, adverse-event rates were similar among treatment groups. CONCLUSIONS: Among patients with moderately to severely active Crohn's disease, those receiving intravenous ustekinumab had a significantly higher rate of response than did those receiving placebo. Subcutaneous ustekinumab maintained remission in patients who had a clinical response to induction therapy. (Funded by Janssen Research and Development; ClinicalTrials.gov numbers, NCT01369329 , NCT01369342 , and NCT01369355 .).

21 Clinical Trial The safety of autologous and metabolically fit bone marrow mesenchymal stromal cells in medically refractory Crohn's disease - a phase 1 trial with three doses. 2016

Dhere, T / Copland, I / Garcia, M / Chiang, K Y / Chinnadurai, R / Prasad, M / Galipeau, J / Kugathasan, S. ·Department of Medicine, Emory University, Atlanta, GA, USA. · Department of Hematology and Medical Oncology, Emory University, Atlanta, GA, USA. · Department of Pediatrics, Emory University, Atlanta, GA, USA. · Children's Healthcare of Atlanta, Atlanta, GA, USA. ·Aliment Pharmacol Ther · Pubmed #27385373.

ABSTRACT: BACKGROUND: Mesenchymal stromal cells ability to reset immune functionalities may be useful in Crohn's disease. AIM: To perform a first-in-human phase 1 safety clinical trial of metabolically fit autologous bone marrow-derived mesenchymal stromal cells in 12 subjects with Crohn's disease utilising three doses. METHODS: Autologous mesenchymal stromal cells were derived from marrow aspirate and propagated for 2-3 weeks with fibrinogen depleted human platelet lysate and subsequently administered to subjects without interval cryobanking. Twelve subjects received a single mesenchymal stromal cell intravenous infusion of 2, 5 or 10 million cells/kg BW(n = 4/group). Infused mesenchymal stromal cells were analysed for cell surface marker expression, IDO(indoleamine 2,3-dioxygenase) upregulation by IFNγ stimulation, and inhibition of third party peripheral blood mononuclear cell proliferation in vitro. The primary end point measured was safety and tolerability; clinical response was assessed as a secondary endpoint. RESULTS: All patients tolerated the mesenchymal stromal cell infusion well and no dose limiting toxicity was seen. Seven patients had serious adverse events of which five were hospitalisations for Crohn's disease flare. Two of these serious adverse events were possibly related to the mesenchymal stromal cells infusion. Five subjects showed clinical response 2 weeks after the infusion. Mesenchymal stromal cell phenotype, cytokine responsiveness, and peripheral blood mononuclear cell proliferation blockade were not different among the patients. CONCLUSION: Single infusion of fresh autologous bone marrow mesenchymal stromal cells propagated ex vivo using human platelet lysate-supplemented media was safe and feasible at intravenous doses of up to 10 million cells/kg BW in patients with Crohn's disease.

22 Clinical Trial Colon capsule endoscopy compared with other modalities in the evaluation of pediatric Crohn's disease of the small bowel and colon. 2016

Oliva, Salvatore / Cucchiara, Salvatore / Civitelli, Fortunata / Casciani, Emanuele / Di Nardo, Giovanni / Hassan, Cesare / Papoff, Paola / Cohen, Stanley A. ·Pediatric Gastroenterology and Liver Unit, Sapienza University of Rome, Rome, Italy. · Radiology DEA, Sapienza-University of Rome, Rome, Italy. · Gastrointestinal Endoscopy Unit, Chatolic University of Rome, Rome, Italy. · Pediatric Intensive Care Unit, Sapienza-University of Rome, Rome, Italy. · Children's Center for Digestive Health Care, Atlanta, Georgia, USA. ·Gastrointest Endosc · Pubmed #26363334.

ABSTRACT: BACKGROUND AND AIMS: Data on colon capsule endoscopy (CCE) in evaluating the small bowel and colon concurrently are rare. This study aimed to evaluate the accuracy of CCE in assessing disease activity of the small bowel and colon in pediatric Crohn's disease (CD) by comparison with magnetic resonance enterography (MRE), small-intestine contrast US (SICUS), and ileocolonoscopy. METHODS: We prospectively enrolled 40 consecutive patients (22 male, 18 female, mean age 13.1 ± 3.1 years) with CD of the small bowel and colon. All underwent SICUS, MRE, CCE, and ileocolonoscopy sequentially over 5 days. All investigators were blinded to patient history and test results. Patients were classified as active or inactive for the small bowel and the colon according to specific criteria for each tool (simple endoscopic score for CD, Lewis score, US and magnetic resonance parameters of activity). For colon mucosa evaluation, ileocolonoscopy was the comparator. For the small bowel, a consensus panel was convened. RESULTS: Sensitivity of CCE to detect colon inflammation was 89%, and specificity was 100%. The positive predictive value (PPV) and negative predictive value (NPV) of CCE for colon inflammation were 100% and 91%, respectively. In the small bowel, CCE showed 90% sensitivity, 94% specificity, with PPV and NPV of 95% and 90%, respectively. Accuracy parameters for SICUS (sensitivity 90%, specificity 83%) and MRE (sensitivity 85%, specificity 89%) were lower than those for CCE. No serious adverse events related to the CCE procedure or preparation were reported. CONCLUSIONS: CCE is of great usefulness in evaluating both small bowel and colon mucosa in pediatric CD. This single, noninvasive tool makes it possible to evaluate the small-bowel and the colon concurrently with high diagnostic accuracy. Future multicenter studies need to define the role of CCE in the routine management of pediatric patients with CD. ( CLINICAL TRIAL REGISTRATION NUMBER: NCT02199626.).

23 Clinical Trial Clinical and mucosal improvement with specific carbohydrate diet in pediatric Crohn disease. 2014

Cohen, Stanley A / Gold, Benjamin D / Oliva, Salvatore / Lewis, Jeffery / Stallworth, Angela / Koch, Bailey / Eshee, Laura / Mason, David. ·*Children's Center for Digestive Health Care †Children's Healthcare of Atlanta, Atlanta, GA ‡Department of Pediatrics, Pediatric Gastroenterology Unit, "La Sapienza" University of Rome, Rome, Italy §Given Imaging, Yoqneam, Israel. ·J Pediatr Gastroenterol Nutr · Pubmed #24897165.

ABSTRACT: OBJECTIVE: The aim of the study was to prospectively evaluate clinical and mucosal responses to the specific carbohydrate diet (SCD) in children with Crohn disease (CD). METHODS: Eligible patients with active CD (Pediatric Crohn's Disease Activity Index [PCDAI] ≥ 15) underwent a patency capsule and, if passed intact, capsule endoscopy (CE) was performed. Patients taking SCD were monitored for 52 weeks while maintaining all prescribed medications. Demographic, dietary, and clinical information, PCDAI, Harvey-Bradshaw Index (HBI), and Lewis score (LS) were collected at 0, 12, and 52 weeks. CEs were evaluated by an experienced reader blinded to patient clinical information and timing. RESULTS: Sixteen patients were screened; 10 enrolled; and 9 completed the initial 12-week trial-receiving 85% of estimated caloric needs before, and 101% on the SCD. HB significantly decreased from 3.3 ± 2.0 to 0.6 ± 1.3 (P = 0.007) as did PCDAI (21.1 ± 5.9 to 7.8 ± 7.1, P = 0.011). LS declined significantly from 2153 ± 732 to 960  ± 433 (P = 0.012). Seven patients continued the SCD up to 52 weeks; HB (0.1 ± 0.4) and PCDAI (5.4 ± 5.5) remained improved (P = 0.016 and 0.027 compared to baseline), with mean LS at 1046 ± 372 and 2 patients showed sustained mucosal healing. CONCLUSIONS: Clinical and mucosal improvements were seen in children with CD, who used SCD for 12 and 52 weeks. In addition, CE can monitor mucosal improvement in treatment trials for pediatric CD. Further studies are critically needed to understand the mechanisms underlying SCD's effectiveness in children with CD.

24 Clinical Trial The use of a patency capsule in pediatric Crohn's disease: a prospective evaluation. 2011

Cohen, Stanley A / Gralnek, Ian M / Ephrath, Hagit / Stallworth, Angela / Wakhisi, Tamara. ·Children's Center for Digestive Health Care, Children's Healthcare of Atlanta, 993-D Johnson Ferry Road, Suite 440, Atlanta, GA 30342, USA. scohen@ccdhc.org ·Dig Dis Sci · Pubmed #20652742.

ABSTRACT: BACKGROUND: Capsule endoscopy (CE) retention remains a concern in patients with suspected or known Crohn's Disease (CD). AIM: The aim of this study was to evaluate the ability of a patency capsule (PC) to establish functional patency in pediatric patients with suspected or known, symptomatic IBD. METHODS: A prospective, single center study evaluating the impact of CE on CD management used PC to qualify patients for CE. Patients excreting an intact PC, usually within 40 h of ingestion, were able to undergo standard video CE. Excretion time, structural integrity and patient safety were evaluated. RESULTS: Eighteen patients (10-16 years of age; 9 male; 5 known CD, 3 indeterminate colitis, 1 ulcerative colitis, 9 suspected CD) ingested the PC. Fifteen patients excreted intact PC (mean 34.5 h), 12 patients within 40 h (range 9-60 h). Sixteen (89%) underwent subsequent CE successfully. CD was eventually diagnosed in all patients having PC transit ≥40 h, whereas CD was the diagnosis in 9/12 (75%) in those patients who passed the PC within 40 h. The mean time of passage for an intact PC was 34.7 h, the longest 60 h. There were no capsule retentions or adverse events. CONCLUSIONS: The PC appears to be a useful screening tool for functional patency of the small bowel in suspected or known pediatric CD. Delayed passage of an intact PC requires careful interpretation.

25 Article Early Onset Granulomatous Colitis Associated with a Mutation in NCF4 Resolved with Hematopoietic Stem Cell Transplantation. 2019

Wright, Mathew / Chandrakasan, Shanmuganathan / Okou, David T / Yin, Hong / Jurickova, Ingrid / Denson, Lee A / Kugathasan, Subra. ·Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Emory University School of Medicine, Atlanta, GA. · Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Emory University School of Medicine, Atlanta, GA; Pediatric Institute, Children's Healthcare of Atlanta, Atlanta, GA. · Pediatric Institute, Children's Healthcare of Atlanta, Atlanta, GA; Department of pathology, Emory University School of Medicine, Atlanta, GA. · Division of Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, Cincinnati, OH. · Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Emory University School of Medicine, Atlanta, GA; Pediatric Institute, Children's Healthcare of Atlanta, Atlanta, GA. Electronic address: skugath@emory.edu. ·J Pediatr · Pubmed #31027832.

ABSTRACT: A 4-year-old boy presented with perianal abscess and granulomatous colitis, which led the diagnosis of Crohn's disease. He became refractory to all available therapies and required colectomy. Targeted sequencing revealed a deleterious variant in NCF4, causing severe neutrophil dysfunction. He underwent hematopoietic stem cell transplantation (HSCT) with an excellent outcome.