Novel de novo mutations of the interleukin-10 receptor gene lead to infantile onset inflammatory bowel disease

Journal of Crohn's and Colitis

Volumn 8, Issue 11, 2014, Pages 1551-1556

  Lee, Cheng Hiang ^a,b   Hsu, Peter ^a,c   Nanan, Brigitte ^c   Nanan, Ralph ^c   Wong, Melanie ^a   Gaskin, Kevin J ^a,b   Leong, Rupert W ^d,e   Murchie, Ryan ^f   Muise, Aleixo M ^f   Stormon, Michael O ^a  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b UNIVERSITY OF SYDNEY   (Australia)

^c UNIVERSITY OF SYDNEY   (Australia)

^d Department of Geriatric Medicine   (Australia)

^e UNIVERSITY OF NEW SOUTH WALES   (Australia)

^f HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

Interleukin 10 deficiency; ; Paediatric; Very early onset inflammatory bowel disease;

Indexed keywords

ANTIBIOTIC AGENT; AZATHIOPRINE; C REACTIVE PROTEIN; CIPROFLOXACIN; CORTICOSTEROID; INFLIXIMAB; INTERLEUKIN 10; INTERLEUKIN 10 RECEPTOR ALPHA; INTERLEUKIN 10 RECEPTOR BETA; INTERLEUKIN 6; METRONIDAZOLE; MILK PROTEIN; STAT3 PROTEIN; TUMOR NECROSIS FACTOR ALPHA; STOP CODON;

ANTIBIOTIC THERAPY; ANUS FISSURE; ARTICLE; ARTIFICIAL MILK; BLOODY DIARRHEA; CASE REPORT; CHRONIC INFLAMMATION; CLINICAL EXAMINATION; COLON RESECTION; COLONOSCOPY; CORTICOSTEROID THERAPY; CROHN DISEASE ACTIVITY INDEX; CYTOKINE RELEASE; DUODENITIS; ENDOSCOPY; ENTERIC FEEDING; ERYTHROCYTE SEDIMENTATION RATE; ESOPHAGITIS; EXON; FAILURE TO THRIVE; FLOW CYTOMETRY; FOOD AVERSION; GASTRITIS; GASTROSTOMY; GENE EXPRESSION; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC SCREENING; GERMLINE MUTATION; GRAM NEGATIVE SEPSIS; GROWTH DISORDER; HUMAN; HYPOALBUMINEMIA; INFANT; INFANT DISEASE; INFLAMMATORY BOWEL DISEASE; MALE; MILK ALLERGY; MISSENSE MUTATION; MULTIPLE CYCLE TREATMENT; NEWBORN; NONSENSE MUTATION; NUTRITIONAL REQUIREMENT; ONSET AGE; PERIPHERAL BLOOD MONONUCLEAR CELL; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; PYODERMA GANGRENOSUM; SIGNAL TRANSDUCTION; SYSTEMIC THERAPY; THROMBOCYTOSIS; TOTAL PARENTERAL NUTRITION; CHEMISTRY; CHILD; DEFICIENCY; GENETICS; HETEROZYGOTE; INFLAMMATORY BOWEL DISEASES; METABOLISM; MONONUCLEAR CELL; PEDIGREE; PRESCHOOL CHILD; STOP CODON;

CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; EXONS; HETEROZYGOTE; HUMANS; INFANT; INFLAMMATORY BOWEL DISEASES; INTERLEUKIN-10; INTERLEUKIN-10 RECEPTOR ALPHA SUBUNIT; LEUKOCYTES, MONONUCLEAR; MALE; MUTATION, MISSENSE; PEDIGREE; SIGNAL TRANSDUCTION;

EID: 84927783778     PISSN: 18739946     EISSN: 18764479     Source Type: Journal    
DOI: 10.1016/j.crohns.2014.04.004     Document Type: Article

References (17)

1. Glocker E.O., Kotlarz D., Boztug K., Gertz E.M., Schaffer A.A., Noyan F., et al. Inflammatory bowel disease and mutations affecting the interleukin-10 receptor. N Engl J Med 2009, 361:2033-2045.
2. Begue B., Verdier J., Rieux-Laucat F., Goulet O., Morali A., Canioni D., et al. Defective IL10 signaling defining a subgroup of patients with inflammatory bowel disease. Am J Gastroenterol 2011, 106:1544-1555.
3. Kotlarz D., Beier R., Murugan D., Diestelhorst J., Jensen O., Boztug K., et al. Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy. Gastroenterology 2012, 143:347-355.
4. Moran C.J., Walters T.D., Guo C.H., Kugathasan S., Klein C., Turner D., et al. IL-10R polymorphisms are associated with very-early-onset ulcerative colitis. Inflamm Bowel Dis 2013, 19:115-123.
5. Josephson K., Logsdon N.J., Walter M.R. Crystal structure of the IL-10/IL-10R1 complex reveals a shared receptor binding site. Immunity 2001, 15:35-46.
6. Williams L., Bradley L., Smith A., Foxwell B. Signal transducer and activator of transcription 3 is the dominant mediator of the anti-inflammatory effects of IL-10 in human macrophages. J Immunol 2004, 172:567-576.
7. Nishimoto N., Kishimoto T. Interleukin 6: from bench to bedside. Nat Clin Pract Rheumatol 2006, 2:619-626.
8. Engelhardt K.R., Shah N., Faizura-Yeop I., Kocacik Uygun D.F., Frede N., Muise A.M., et al. Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation. J Allergy Clin Immunol 2013, 131:825-830.
9. Mao H., Yang W., Lee P., Ho M.H., Yang J., Zeng S., et al. Exome sequencing identifies novel compound heterozygous mutations of IL-10 receptor 1 in neonatal-onset Crohn's disease. Genes Immun 2012, 13:437-442.
10. Sellon R.K., Tonkonogy S., Schultz M., Dieleman L.A., Grenther W., Balish E., et al. Resident enteric bacteria are necessary for development of spontaneous colitis and immune system activation in interleukin-10-deficient mice. Infect Immun 1998, 66:5224-5231.
11. Franke A., Balschun T., Karlsen T.H., Sventoraityte J., Nikolaus S., Mayr G., et al. Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility. Nat Genet 2008, 40:1319-1323.
12. Galatola M., Miele E., Strisciuglio C., Paparo L., Rega D., Delrio P., et al. Synergistic effect of interleukin-10-receptor variants in a case of early-onset ulcerative colitis. World J Gastroenterol 2013, 19:8659-8670.
13. Shah N., Kammermeier J., Elawad M., Glocker E.O. Interleukin-10 and interleukin-10-receptor defects in inflammatory bowel disease. Curr Allergy Asthma Rep 2012, 12:373-379.
14. Glocker E.-O., Frede N., Perro M., Sebire N., Elawad M., Shah N., et al. Infant colitis-it's in the genes. Lancet 2010, 376:1272.
15. Pigneur B., Escher J., Elawad M., Lima R., Buderus S., Kierkus J., et al. Phenotypic characterization of very early-onset IBD due to mutations in the IL10, IL10 receptor alpha or beta gene: a survey of the GENIUS Working Group. Inflamm Bowel Dis 2013, 19:2820-2828.
16. del Carmen S., de Moreno de LeBlanc A., Perdigon G., Bastos Pereira V., Miyoshi A., Azevedo V., et al. Evaluation of the anti-inflammatory effect of milk fermented by a strain of IL-10-producing Lactococcus lactis using a murine model of Crohn's disease. J Mol Microbiol Biotechnol 2011, 21:138-146.
17. Braat H., Rottiers P., Hommes D.W., Huyghebaert N., Remaut E., Remon J.P., et al. A phase I trial with transgenic bacteria expressing interleukin-10 in Crohn's disease. Clin Gastroenterol Hepatol 2006, 4:754-759.