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Clinical outcome in IL-10– and IL-10 receptor–deficient patients with or without hematopoietic stem cell transplantation

Background Inherited deficiencies of IL-10 or IL-10 receptor (IL-10R) lead to immune dysregulation with life-threatening early-onset enterocolitis. Objectives We sought to gather clinical data of IL-10/IL-10R–deficient patients and devise guidelines for diagnosis and management, including hematopoie... Full description

Journal Title: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY 2012, Vol.131 (3), p.825-830.e9
Main Author: Engelhardt, Karin R., PhD
Other Authors: Shah, Neil, MD , Faizura-Yeop, Intan, MD , Kocacik Uygun, Dilara F., MD , Frede, Natalie , Muise, Aleixo M., MD, PhD , Shteyer, Eyal, MD , Filiz, Serkan, MD , Chee, Ronnie, MD , Elawad, Mamoun, MD , Hartmann, Britta, PhD , Arkwright, Peter D., MD, PhD , Dvorak, Christopher, MD , Klein, Christoph, MD, PhD , Puck, Jennifer M., MD , Grimbacher, Bodo, MD , Glocker, Erik-Oliver, MD
Format: Electronic Article Electronic Article
Language: English
Subjects:
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Quelle: Alma/SFX Local Collection
Publisher: New York, NY: Mosby, Inc
ID: ISSN: 0091-6749
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title: Clinical outcome in IL-10– and IL-10 receptor–deficient patients with or without hematopoietic stem cell transplantation
format: Article
creator:
  • Engelhardt, Karin R., PhD
  • Shah, Neil, MD
  • Faizura-Yeop, Intan, MD
  • Kocacik Uygun, Dilara F., MD
  • Frede, Natalie
  • Muise, Aleixo M., MD, PhD
  • Shteyer, Eyal, MD
  • Filiz, Serkan, MD
  • Chee, Ronnie, MD
  • Elawad, Mamoun, MD
  • Hartmann, Britta, PhD
  • Arkwright, Peter D., MD, PhD
  • Dvorak, Christopher, MD
  • Klein, Christoph, MD, PhD
  • Puck, Jennifer M., MD
  • Grimbacher, Bodo, MD
  • Glocker, Erik-Oliver, MD
subjects:
  • Abridged Index Medicus
  • Adult
  • Allergy and Immunology
  • Biological and medical sciences
  • Child
  • Child, Preschool
  • Children's hospitals
  • colectomy
  • Colitis - diagnosis
  • Colitis - etiology
  • Colitis - genetics
  • Colitis - therapy
  • Colleges & universities
  • Deoxyribonucleic acid
  • Disease
  • DNA
  • enterocolitis
  • Family medical history
  • Female
  • Fundamental and applied biological sciences. Psychology
  • Fundamental immunology
  • Gastroenterology. Liver. Pancreas. Abdomen
  • Hematopoietic Stem Cell Transplantation
  • Hematopoietic stem cells
  • Hospitals
  • Humans
  • IL-10
  • IL-10 receptor
  • Immunodeficiency
  • Immunologic Deficiency Syndromes - complications
  • Immunologic Deficiency Syndromes - diagnosis
  • Immunologic Deficiency Syndromes - genetics
  • Immunologic Deficiency Syndromes - therapy
  • Immunopathology
  • Infant
  • Infant, Newborn
  • Inflammatory bowel disease
  • Interleukin-10 - deficiency
  • Lymphocytes
  • Male
  • Medical colleges
  • Medical sciences
  • Mutation
  • mutations
  • Other diseases. Semiology
  • Patient outcomes
  • Patients
  • Pediatrics
  • Proteins
  • Receptors, Interleukin-10 - deficiency
  • Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis
  • Stem cells
  • Stomach. Duodenum. Small intestine. Colon. Rectum. Anus
  • Transplantation
ispartof: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2012, Vol.131 (3), p.825-830.e9
description: Background Inherited deficiencies of IL-10 or IL-10 receptor (IL-10R) lead to immune dysregulation with life-threatening early-onset enterocolitis. Objectives We 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). Methods We 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. Results Of 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. Conclusion Because 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.
language: eng
source: Alma/SFX Local Collection
identifier: ISSN: 0091-6749
fulltext: fulltext
issn:
  • 0091-6749
  • 1097-6825
url: Link


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titleClinical outcome in IL-10– and IL-10 receptor–deficient patients with or without hematopoietic stem cell transplantation
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creatorEngelhardt, Karin R., PhD ; Shah, Neil, MD ; Faizura-Yeop, Intan, MD ; Kocacik Uygun, Dilara F., MD ; Frede, Natalie ; Muise, Aleixo M., MD, PhD ; Shteyer, Eyal, MD ; Filiz, Serkan, MD ; Chee, Ronnie, MD ; Elawad, Mamoun, MD ; Hartmann, Britta, PhD ; Arkwright, Peter D., MD, PhD ; Dvorak, Christopher, MD ; Klein, Christoph, MD, PhD ; Puck, Jennifer M., MD ; Grimbacher, Bodo, MD ; Glocker, Erik-Oliver, MD
creatorcontribEngelhardt, Karin R., PhD ; Shah, Neil, MD ; Faizura-Yeop, Intan, MD ; Kocacik Uygun, Dilara F., MD ; Frede, Natalie ; Muise, Aleixo M., MD, PhD ; Shteyer, Eyal, MD ; Filiz, Serkan, MD ; Chee, Ronnie, MD ; Elawad, Mamoun, MD ; Hartmann, Britta, PhD ; Arkwright, Peter D., MD, PhD ; Dvorak, Christopher, MD ; Klein, Christoph, MD, PhD ; Puck, Jennifer M., MD ; Grimbacher, Bodo, MD ; Glocker, Erik-Oliver, MD
descriptionBackground Inherited deficiencies of IL-10 or IL-10 receptor (IL-10R) lead to immune dysregulation with life-threatening early-onset enterocolitis. Objectives We 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). Methods We 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. Results Of 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. Conclusion Because 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.
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languageeng
publisherNew York, NY: Mosby, Inc
subjectAbridged Index Medicus ; Adult ; Allergy and Immunology ; Biological and medical sciences ; Child ; Child, Preschool ; Children's hospitals ; colectomy ; Colitis - diagnosis ; Colitis - etiology ; Colitis - genetics ; Colitis - therapy ; Colleges & universities ; Deoxyribonucleic acid ; Disease ; DNA ; enterocolitis ; Family medical history ; Female ; Fundamental and applied biological sciences. Psychology ; Fundamental immunology ; Gastroenterology. Liver. Pancreas. Abdomen ; Hematopoietic Stem Cell Transplantation ; Hematopoietic stem cells ; Hospitals ; Humans ; IL-10 ; IL-10 receptor ; Immunodeficiency ; Immunologic Deficiency Syndromes - complications ; Immunologic Deficiency Syndromes - diagnosis ; Immunologic Deficiency Syndromes - genetics ; Immunologic Deficiency Syndromes - therapy ; Immunopathology ; Infant ; Infant, Newborn ; Inflammatory bowel disease ; Interleukin-10 - deficiency ; Lymphocytes ; Male ; Medical colleges ; Medical sciences ; Mutation ; mutations ; Other diseases. Semiology ; Patient outcomes ; Patients ; Pediatrics ; Proteins ; Receptors, Interleukin-10 - deficiency ; Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis ; Stem cells ; Stomach. Duodenum. Small intestine. Colon. Rectum. Anus ; Transplantation
ispartofJOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2012, Vol.131 (3), p.825-830.e9
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0American Academy of Allergy, Asthma & Immunology
12012 American Academy of Allergy, Asthma & Immunology
22014 INIST-CNRS
3Copyright © 2012 American Academy of Allergy, Asthma & Immunology. Published by Mosby, Inc. All rights reserved.
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5Copyright Elsevier Limited Mar 2013
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7Filiz, Serkan, MD
8Chee, Ronnie, MD
9Elawad, Mamoun, MD
10Hartmann, Britta, PhD
11Arkwright, Peter D., MD, PhD
12Dvorak, Christopher, MD
13Klein, Christoph, MD, PhD
14Puck, Jennifer M., MD
15Grimbacher, Bodo, MD
16Glocker, Erik-Oliver, MD
title
0Clinical outcome in IL-10– and IL-10 receptor–deficient patients with or without hematopoietic stem cell transplantation
1JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
addtitleJ Allergy Clin Immunol
descriptionBackground Inherited deficiencies of IL-10 or IL-10 receptor (IL-10R) lead to immune dysregulation with life-threatening early-onset enterocolitis. Objectives We 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). Methods We 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. Results Of 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. Conclusion Because 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.
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2Allergy and Immunology
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8Colitis - diagnosis
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12Colleges & universities
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15DNA
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17Family medical history
18Female
19Fundamental and applied biological sciences. Psychology
20Fundamental immunology
21Gastroenterology. Liver. Pancreas. Abdomen
22Hematopoietic Stem Cell Transplantation
23Hematopoietic stem cells
24Hospitals
25Humans
26IL-10
27IL-10 receptor
28Immunodeficiency
29Immunologic Deficiency Syndromes - complications
30Immunologic Deficiency Syndromes - diagnosis
31Immunologic Deficiency Syndromes - genetics
32Immunologic Deficiency Syndromes - therapy
33Immunopathology
34Infant
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38Lymphocytes
39Male
40Medical colleges
41Medical sciences
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43mutations
44Other diseases. Semiology
45Patient outcomes
46Patients
47Pediatrics
48Proteins
49Receptors, Interleukin-10 - deficiency
50Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis
51Stem cells
52Stomach. Duodenum. Small intestine. Colon. Rectum. Anus
53Transplantation
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0Engelhardt, Karin R., PhD
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2Faizura-Yeop, Intan, MD
3Kocacik Uygun, Dilara F., MD
4Frede, Natalie
5Muise, Aleixo M., MD, PhD
6Shteyer, Eyal, MD
7Filiz, Serkan, MD
8Chee, Ronnie, MD
9Elawad, Mamoun, MD
10Hartmann, Britta, PhD
11Arkwright, Peter D., MD, PhD
12Dvorak, Christopher, MD
13Klein, Christoph, MD, PhD
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15Grimbacher, Bodo, MD
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titleClinical outcome in IL-10– and IL-10 receptor–deficient patients with or without hematopoietic stem cell transplantation
authorEngelhardt, Karin R., PhD ; Shah, Neil, MD ; Faizura-Yeop, Intan, MD ; Kocacik Uygun, Dilara F., MD ; Frede, Natalie ; Muise, Aleixo M., MD, PhD ; Shteyer, Eyal, MD ; Filiz, Serkan, MD ; Chee, Ronnie, MD ; Elawad, Mamoun, MD ; Hartmann, Britta, PhD ; Arkwright, Peter D., MD, PhD ; Dvorak, Christopher, MD ; Klein, Christoph, MD, PhD ; Puck, Jennifer M., MD ; Grimbacher, Bodo, MD ; Glocker, Erik-Oliver, MD
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0Abridged Index Medicus
1Adult
2Allergy and Immunology
3Biological and medical sciences
4Child
5Child, Preschool
6Children's hospitals
7colectomy
8Colitis - diagnosis
9Colitis - etiology
10Colitis - genetics
11Colitis - therapy
12Colleges & universities
13Deoxyribonucleic acid
14Disease
15DNA
16enterocolitis
17Family medical history
18Female
19Fundamental and applied biological sciences. Psychology
20Fundamental immunology
21Gastroenterology. Liver. Pancreas. Abdomen
22Hematopoietic Stem Cell Transplantation
23Hematopoietic stem cells
24Hospitals
25Humans
26IL-10
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28Immunodeficiency
29Immunologic Deficiency Syndromes - complications
30Immunologic Deficiency Syndromes - diagnosis
31Immunologic Deficiency Syndromes - genetics
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45Patient outcomes
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49Receptors, Interleukin-10 - deficiency
50Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis
51Stem cells
52Stomach. Duodenum. Small intestine. Colon. Rectum. Anus
53Transplantation
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3Kocacik Uygun, Dilara F., MD
4Frede, Natalie
5Muise, Aleixo M., MD, PhD
6Shteyer, Eyal, MD
7Filiz, Serkan, MD
8Chee, Ronnie, MD
9Elawad, Mamoun, MD
10Hartmann, Britta, PhD
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6Shteyer, Eyal, MD
7Filiz, Serkan, MD
8Chee, Ronnie, MD
9Elawad, Mamoun, MD
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abstractBackground Inherited deficiencies of IL-10 or IL-10 receptor (IL-10R) lead to immune dysregulation with life-threatening early-onset enterocolitis. Objectives We 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). Methods We 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. Results Of 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. Conclusion Because 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.
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