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Appendix
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Literature
1.
go back to reference Uhlig HH, Charbit-Henrion F, Kotlarz D, Shouval DS, Schwerd T, Strisciuglio C, et al. Clinical genomics for the diagnosis of monogenic forms of inflammatory bowel disease: a position paper from the Paediatric IBD Porto Group of European Society of Paediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol Nutr. 2021;72:456–73.CrossRefPubMedPubMedCentral Uhlig HH, Charbit-Henrion F, Kotlarz D, Shouval DS, Schwerd T, Strisciuglio C, et al. Clinical genomics for the diagnosis of monogenic forms of inflammatory bowel disease: a position paper from the Paediatric IBD Porto Group of European Society of Paediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol Nutr. 2021;72:456–73.CrossRefPubMedPubMedCentral
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go back to reference Dorjbal B, Stinson JR, Ma CA, Weinreich MA, Miraghazadeh B, Hartberger JM, et al. Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease. J Allergy Clin Immunol. 2019;143:1482–95.CrossRefPubMed Dorjbal B, Stinson JR, Ma CA, Weinreich MA, Miraghazadeh B, Hartberger JM, et al. Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease. J Allergy Clin Immunol. 2019;143:1482–95.CrossRefPubMed
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go back to reference Meitlis I, Allenspach EJ, Bauman BM, Phan IQ, Dabbah G, Schmitt EG, et al. Multiplexed functional assessment of genetic variants in CARD11. Am J Hum Genet. 2020;107:1029–43.CrossRefPubMedPubMedCentral Meitlis I, Allenspach EJ, Bauman BM, Phan IQ, Dabbah G, Schmitt EG, et al. Multiplexed functional assessment of genetic variants in CARD11. Am J Hum Genet. 2020;107:1029–43.CrossRefPubMedPubMedCentral
Metadata
Title
Very Early Onset Inflammatory Bowel Disease Caused by a Novel Dominant Negative Mutation of Caspase Recruitment Domain 11 (CARD11)
Authors
Wenhui Hu
Ziqing Ye
Ping Li
Yuhuan Wang
Ying Huang
Publication date
29-11-2022
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 3/2023
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-022-01387-2

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