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Multisystem Autoimmune Inflammatory Disease, Including Colitis, Due to Inborn Error of Immunity.

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Title: Multisystem Autoimmune Inflammatory Disease, Including Colitis, Due to Inborn Error of Immunity.
Authors: Malik, Aniko, Stringer, Elizabeth, Warner, Neil, van Limbergen, Johan, Vandersteen, Anthony, Muise, Aleixo, Derfalvi, Beata
Source: Pediatrics. Nov2021, Vol. 148 Issue 5, p1-6. 6p.
Subjects: Inflammatory bowel disease diagnosis, Autoimmune disease treatment, Immunoglobulin analysis, Inflammatory bowel disease treatment, Autoimmune disease diagnosis, Inflammatory bowel diseases, B cells, Sequence analysis, Nonsteroidal anti-inflammatory agents, Inflammation, Genetic disorders, Cell receptors, Comparative studies, Health care teams, Immunophenotyping, Genomes, Tumor necrosis factors, Colitis
Abstract: Our understanding of inflammatory bowel disease is changing as we identify genetic variants associated with immune dysregulation. Inflammatory bowel disease undetermined, even when diagnosed in older children and adolescents, in the setting of multiple inflammatory and infectious diseases should raise the suspicion of complex immune dysregulation with a monogenic basis. We report a case of inflammatory bowel disease undetermined triggered by exposure to a nonsteroidal antiinflammatory drug in a 16-year-old girl with a background history of juvenile idiopathic arthritis, cytopenias, recurrent respiratory tract and middle ear infections, and esophageal candidiasis. Immunologic assessment included measurement of immunoglobulin levels, lymphocyte immunophenotyping, B-cell functional tests, and whole-exome sequencing. Laboratory investigation revealed defects of humoral immunity, including mild persistent hypogammaglobulinemia affecting all 3 isotypes and absent isohemagglutinins. Whole exome sequencing revealed a heterozygous TNFRSF13B (Tumor Necrosis Factor Receptor Superfamily Member 13B, or Transmembrane Activator and Calcium-modulating cyclophilin ligand Interactor, TACI) gene variant, which is associated with common variable immunodeficiency and the development of autoimmune diseases. In conclusion, a clinical history of recurrent infections, atypical histologic features of inflammatory bowel disease, additional autoimmune manifestations, and an inadequate response to conventional therapy should prompt the physician to refer to an immunologist with the query of inborn error of immunity. We report how extensive immune evaluation and genetic diagnosis can individualize care and facilitate a multidisciplinary team approach. [ABSTRACT FROM AUTHOR]
Copyright of Pediatrics is the property of American Academy of Pediatrics and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: Multisystem Autoimmune Inflammatory Disease, Including Colitis, Due to Inborn Error of Immunity.
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  Data: <searchLink fieldCode="JN" term="%22Pediatrics%22">Pediatrics</searchLink>. Nov2021, Vol. 148 Issue 5, p1-6. 6p.
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  Data: <searchLink fieldCode="DE" term="%22Inflammatory+bowel+disease+diagnosis%22">Inflammatory bowel disease diagnosis</searchLink><br /><searchLink fieldCode="DE" term="%22Autoimmune+disease+treatment%22">Autoimmune disease treatment</searchLink><br /><searchLink fieldCode="DE" term="%22Immunoglobulin+analysis%22">Immunoglobulin analysis</searchLink><br /><searchLink fieldCode="DE" term="%22Inflammatory+bowel+disease+treatment%22">Inflammatory bowel disease treatment</searchLink><br /><searchLink fieldCode="DE" term="%22Autoimmune+disease+diagnosis%22">Autoimmune disease diagnosis</searchLink><br /><searchLink fieldCode="DE" term="%22Inflammatory+bowel+diseases%22">Inflammatory bowel diseases</searchLink><br /><searchLink fieldCode="DE" term="%22B+cells%22">B cells</searchLink><br /><searchLink fieldCode="DE" term="%22Sequence+analysis%22">Sequence analysis</searchLink><br /><searchLink fieldCode="DE" term="%22Nonsteroidal+anti-inflammatory+agents%22">Nonsteroidal anti-inflammatory agents</searchLink><br /><searchLink fieldCode="DE" term="%22Inflammation%22">Inflammation</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+disorders%22">Genetic disorders</searchLink><br /><searchLink fieldCode="DE" term="%22Cell+receptors%22">Cell receptors</searchLink><br /><searchLink fieldCode="DE" term="%22Comparative+studies%22">Comparative studies</searchLink><br /><searchLink fieldCode="DE" term="%22Health+care+teams%22">Health care teams</searchLink><br /><searchLink fieldCode="DE" term="%22Immunophenotyping%22">Immunophenotyping</searchLink><br /><searchLink fieldCode="DE" term="%22Genomes%22">Genomes</searchLink><br /><searchLink fieldCode="DE" term="%22Tumor+necrosis+factors%22">Tumor necrosis factors</searchLink><br /><searchLink fieldCode="DE" term="%22Colitis%22">Colitis</searchLink>
– Name: Abstract
  Label: Abstract
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  Data: Our understanding of inflammatory bowel disease is changing as we identify genetic variants associated with immune dysregulation. Inflammatory bowel disease undetermined, even when diagnosed in older children and adolescents, in the setting of multiple inflammatory and infectious diseases should raise the suspicion of complex immune dysregulation with a monogenic basis. We report a case of inflammatory bowel disease undetermined triggered by exposure to a nonsteroidal antiinflammatory drug in a 16-year-old girl with a background history of juvenile idiopathic arthritis, cytopenias, recurrent respiratory tract and middle ear infections, and esophageal candidiasis. Immunologic assessment included measurement of immunoglobulin levels, lymphocyte immunophenotyping, B-cell functional tests, and whole-exome sequencing. Laboratory investigation revealed defects of humoral immunity, including mild persistent hypogammaglobulinemia affecting all 3 isotypes and absent isohemagglutinins. Whole exome sequencing revealed a heterozygous TNFRSF13B (Tumor Necrosis Factor Receptor Superfamily Member 13B, or Transmembrane Activator and Calcium-modulating cyclophilin ligand Interactor, TACI) gene variant, which is associated with common variable immunodeficiency and the development of autoimmune diseases. In conclusion, a clinical history of recurrent infections, atypical histologic features of inflammatory bowel disease, additional autoimmune manifestations, and an inadequate response to conventional therapy should prompt the physician to refer to an immunologist with the query of inborn error of immunity. We report how extensive immune evaluation and genetic diagnosis can individualize care and facilitate a multidisciplinary team approach. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
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  Data: <i>Copyright of Pediatrics is the property of American Academy of Pediatrics and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=pbh&AN=153397688
RecordInfo BibRecord:
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    Identifiers:
      – Type: doi
        Value: 10.1542/peds.2021-050614
    Languages:
      – Code: eng
        Text: English
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      Pagination:
        PageCount: 6
        StartPage: 1
    Subjects:
      – SubjectFull: Inflammatory bowel disease diagnosis
        Type: general
      – SubjectFull: Autoimmune disease treatment
        Type: general
      – SubjectFull: Immunoglobulin analysis
        Type: general
      – SubjectFull: Inflammatory bowel disease treatment
        Type: general
      – SubjectFull: Autoimmune disease diagnosis
        Type: general
      – SubjectFull: Inflammatory bowel diseases
        Type: general
      – SubjectFull: B cells
        Type: general
      – SubjectFull: Sequence analysis
        Type: general
      – SubjectFull: Nonsteroidal anti-inflammatory agents
        Type: general
      – SubjectFull: Inflammation
        Type: general
      – SubjectFull: Genetic disorders
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      – SubjectFull: Cell receptors
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      – SubjectFull: Comparative studies
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      – SubjectFull: Health care teams
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      – SubjectFull: Immunophenotyping
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      – SubjectFull: Genomes
        Type: general
      – SubjectFull: Tumor necrosis factors
        Type: general
      – SubjectFull: Colitis
        Type: general
    Titles:
      – TitleFull: Multisystem Autoimmune Inflammatory Disease, Including Colitis, Due to Inborn Error of Immunity.
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              M: 11
              Text: Nov2021
              Type: published
              Y: 2021
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              Value: 148
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