Eosinophilic gastrointestinal disorders in patients with inborn errors of immunity: Data from the USIDNET registry
RationaleEosinophilic gastrointestinal disorders (EGID), including eosinophilic esophagitis (EoE), are inflammatory disorders of the gastrointestinal mucosa mediated by complex immune mechanisms. Although there have been initial reports of EGID in patients with inborn errors of immunity (IEI), littl...
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2022-09-01
|
| Series: | Frontiers in Immunology |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fimmu.2022.987895/full |
| _version_ | 1798001476223631360 |
|---|---|
| author | Paulina Tran Laura Gober Elizabeth K. Garabedian Ramsay L. Fuleihan Jennifer M. Puck Kathleen E. Sullivan Kathleen E. Sullivan Jonathan M. Spergel Jonathan M. Spergel Melanie A. Ruffner Melanie A. Ruffner |
| author_facet | Paulina Tran Laura Gober Elizabeth K. Garabedian Ramsay L. Fuleihan Jennifer M. Puck Kathleen E. Sullivan Kathleen E. Sullivan Jonathan M. Spergel Jonathan M. Spergel Melanie A. Ruffner Melanie A. Ruffner |
| author_sort | Paulina Tran |
| collection | DOAJ |
| description | RationaleEosinophilic gastrointestinal disorders (EGID), including eosinophilic esophagitis (EoE), are inflammatory disorders of the gastrointestinal mucosa mediated by complex immune mechanisms. Although there have been initial reports of EGID in patients with inborn errors of immunity (IEI), little is known about the presentation of EGID in immunodeficient individuals.MethodsWe queried the U.S. Immunodeficiency Network (USIDNET) for patient records including the terms eosinophilic esophagitis, gastritis, enteritis, or colitis. We analyzed 74 patient records from the database, including diagnoses, demographics, infectious history, laboratory findings, genetic studies, therapeutic interventions, and clinical outcomes.ResultsWe examined 74 patient records. A total of 61 patients had isolated EoE, and 13 had distal gastrointestinal involvement consistent with EGID. The most common IEI were common variable immunodeficiency (43.2%), some form of combined immunodeficiency (21.6%), chronic granulomatous disease (8.1%), hyper-IgE syndrome (6.8%), and autoimmune lymphoproliferative syndrome (6.8%). The median age at presentation with IEI was 0.5 years (IQR 1.725, max 39 years) and 56.76% were male. Approximately 20% of the patients in the cohort received a hematopoietic stem cell transplantation for treatment of IEI, but the timing of the HSCT in relationship to the EGID diagnosis was unknown.ConclusionsHere, we report EGID in a diverse cohort of IEI patients, suggesting that both non-EoE EGID and EoE can be seen as comorbid conditions with a variety of IEI. Our data suggests that EGID may be more common in patients with IEI than would be expected based on estimates of EGID in the general population. |
| first_indexed | 2024-04-11T11:36:54Z |
| format | Article |
| id | doaj.art-8d040440ecdd488682ba0dce651efc75 |
| institution | Directory Open Access Journal |
| issn | 1664-3224 |
| language | English |
| last_indexed | 2024-04-11T11:36:54Z |
| publishDate | 2022-09-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Immunology |
| spelling | doaj.art-8d040440ecdd488682ba0dce651efc752022-12-22T04:25:56ZengFrontiers Media S.A.Frontiers in Immunology1664-32242022-09-011310.3389/fimmu.2022.987895987895Eosinophilic gastrointestinal disorders in patients with inborn errors of immunity: Data from the USIDNET registryPaulina Tran0Laura Gober1Elizabeth K. Garabedian2Ramsay L. Fuleihan3Jennifer M. Puck4Kathleen E. Sullivan5Kathleen E. Sullivan6Jonathan M. Spergel7Jonathan M. Spergel8Melanie A. Ruffner9Melanie A. Ruffner10Division of Allergy & Immunology, Children’s Hospital of Philadelphia, Philadelphia, PA, United StatesDivision of Allergy & Immunology, Children’s Hospital of Philadelphia, Philadelphia, PA, United StatesNational Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United StatesDivision of Allergy & Immunology, Columbia University Irving Medical Center, New York, NY, United StatesDivision of Allergy, Immunology and Blood and Marrow Transplantation, Department of Pediatrics, UCSF Benioff Children’s Hospital San Francisco, School of Medicine, University of California San Francisco, San Francisco, CA, United StatesDivision of Allergy & Immunology, Children’s Hospital of Philadelphia, Philadelphia, PA, United StatesDepartment of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United StatesDivision of Allergy & Immunology, Children’s Hospital of Philadelphia, Philadelphia, PA, United StatesDepartment of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United StatesDivision of Allergy & Immunology, Children’s Hospital of Philadelphia, Philadelphia, PA, United StatesDepartment of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United StatesRationaleEosinophilic gastrointestinal disorders (EGID), including eosinophilic esophagitis (EoE), are inflammatory disorders of the gastrointestinal mucosa mediated by complex immune mechanisms. Although there have been initial reports of EGID in patients with inborn errors of immunity (IEI), little is known about the presentation of EGID in immunodeficient individuals.MethodsWe queried the U.S. Immunodeficiency Network (USIDNET) for patient records including the terms eosinophilic esophagitis, gastritis, enteritis, or colitis. We analyzed 74 patient records from the database, including diagnoses, demographics, infectious history, laboratory findings, genetic studies, therapeutic interventions, and clinical outcomes.ResultsWe examined 74 patient records. A total of 61 patients had isolated EoE, and 13 had distal gastrointestinal involvement consistent with EGID. The most common IEI were common variable immunodeficiency (43.2%), some form of combined immunodeficiency (21.6%), chronic granulomatous disease (8.1%), hyper-IgE syndrome (6.8%), and autoimmune lymphoproliferative syndrome (6.8%). The median age at presentation with IEI was 0.5 years (IQR 1.725, max 39 years) and 56.76% were male. Approximately 20% of the patients in the cohort received a hematopoietic stem cell transplantation for treatment of IEI, but the timing of the HSCT in relationship to the EGID diagnosis was unknown.ConclusionsHere, we report EGID in a diverse cohort of IEI patients, suggesting that both non-EoE EGID and EoE can be seen as comorbid conditions with a variety of IEI. Our data suggests that EGID may be more common in patients with IEI than would be expected based on estimates of EGID in the general population.https://www.frontiersin.org/articles/10.3389/fimmu.2022.987895/fullprimary immunodeficiencyeosinophilic gastrointestinal disorders (EGID)eosinophilic esophagitis (EoE)inborn errors of immunity (IEI)immune dysregulation |
| spellingShingle | Paulina Tran Laura Gober Elizabeth K. Garabedian Ramsay L. Fuleihan Jennifer M. Puck Kathleen E. Sullivan Kathleen E. Sullivan Jonathan M. Spergel Jonathan M. Spergel Melanie A. Ruffner Melanie A. Ruffner Eosinophilic gastrointestinal disorders in patients with inborn errors of immunity: Data from the USIDNET registry Frontiers in Immunology primary immunodeficiency eosinophilic gastrointestinal disorders (EGID) eosinophilic esophagitis (EoE) inborn errors of immunity (IEI) immune dysregulation |
| title | Eosinophilic gastrointestinal disorders in patients with inborn errors of immunity: Data from the USIDNET registry |
| title_full | Eosinophilic gastrointestinal disorders in patients with inborn errors of immunity: Data from the USIDNET registry |
| title_fullStr | Eosinophilic gastrointestinal disorders in patients with inborn errors of immunity: Data from the USIDNET registry |
| title_full_unstemmed | Eosinophilic gastrointestinal disorders in patients with inborn errors of immunity: Data from the USIDNET registry |
| title_short | Eosinophilic gastrointestinal disorders in patients with inborn errors of immunity: Data from the USIDNET registry |
| title_sort | eosinophilic gastrointestinal disorders in patients with inborn errors of immunity data from the usidnet registry |
| topic | primary immunodeficiency eosinophilic gastrointestinal disorders (EGID) eosinophilic esophagitis (EoE) inborn errors of immunity (IEI) immune dysregulation |
| url | https://www.frontiersin.org/articles/10.3389/fimmu.2022.987895/full |
| work_keys_str_mv | AT paulinatran eosinophilicgastrointestinaldisordersinpatientswithinbornerrorsofimmunitydatafromtheusidnetregistry AT lauragober eosinophilicgastrointestinaldisordersinpatientswithinbornerrorsofimmunitydatafromtheusidnetregistry AT elizabethkgarabedian eosinophilicgastrointestinaldisordersinpatientswithinbornerrorsofimmunitydatafromtheusidnetregistry AT ramsaylfuleihan eosinophilicgastrointestinaldisordersinpatientswithinbornerrorsofimmunitydatafromtheusidnetregistry AT jennifermpuck eosinophilicgastrointestinaldisordersinpatientswithinbornerrorsofimmunitydatafromtheusidnetregistry AT kathleenesullivan eosinophilicgastrointestinaldisordersinpatientswithinbornerrorsofimmunitydatafromtheusidnetregistry AT kathleenesullivan eosinophilicgastrointestinaldisordersinpatientswithinbornerrorsofimmunitydatafromtheusidnetregistry AT jonathanmspergel eosinophilicgastrointestinaldisordersinpatientswithinbornerrorsofimmunitydatafromtheusidnetregistry AT jonathanmspergel eosinophilicgastrointestinaldisordersinpatientswithinbornerrorsofimmunitydatafromtheusidnetregistry AT melaniearuffner eosinophilicgastrointestinaldisordersinpatientswithinbornerrorsofimmunitydatafromtheusidnetregistry AT melaniearuffner eosinophilicgastrointestinaldisordersinpatientswithinbornerrorsofimmunitydatafromtheusidnetregistry |