Autoimmune Cytopenias Are Highly Associated with Inborn Errors of Immunity and They May Be the Initial Presentations in Cases without Severe Infections.
| Title: | Autoimmune Cytopenias Are Highly Associated with Inborn Errors of Immunity and They May Be the Initial Presentations in Cases without Severe Infections. |
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| Authors: | Taskin RB; Department of Pediatric Rheumatology, Ege University Faculty of Medicine, Izmir, Turkey.; Topyıldız E; Department of Pediatric Immunology, Ege University Faculty of Medicine, Izmir, Turkey.; Edeer Karaca N; Department of Pediatric Immunology, Ege University Faculty of Medicine, Izmir, Turkey.; Aksu G; Department of Pediatric Rheumatology, Ege University Faculty of Medicine, Izmir, Turkey.; Department of Pediatric Immunology, Ege University Faculty of Medicine, Izmir, Turkey.; Yılmaz Karapınar D; Department of Pediatric Heamatology, Ege University Faculty of Medicine, Izmir, Turkey.; Kutukculer N; Department of Pediatric Rheumatology, Ege University Faculty of Medicine, Izmir, Turkey.; Department of Pediatric Immunology, Ege University Faculty of Medicine, Izmir, Turkey. |
| Source: | International archives of allergy and immunology [Int Arch Allergy Immunol] 2024; Vol. 185 (4), pp. 392-401. Date of Electronic Publication: 2023 Dec 28. |
| Publication Type: | Journal Article |
| Language: | English |
| Journal Info: | Publisher: S. Karger Country of Publication: Switzerland NLM ID: 9211652 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1423-0097 (Electronic) Linking ISSN: 10182438 NLM ISO Abbreviation: Int Arch Allergy Immunol Subsets: MEDLINE |
| Imprint Name(s): | Original Publication: Basel ; New York : S. Karger, 1992- |
| MeSH Terms: | Anemia, Hemolytic, Autoimmune*/diagnosis ; Anemia, Hemolytic, Autoimmune*/drug therapy ; Anemia, Hemolytic, Autoimmune*/etiology ; Purpura, Thrombocytopenic, Idiopathic*/diagnosis ; Purpura, Thrombocytopenic, Idiopathic*/drug therapy ; Cytopenia* ; Thrombocytopenia*; Delayed Diagnosis/adverse effects ; Child ; Humans ; Retrospective Studies |
| Abstract: | Introduction: Inborn errors of immunity (IEIs) are inherited disorders that present with increased susceptibility to infections as well as noninfectious complications. Due to the aberrant immune functions of patients with IEI, autoimmune cytopenia (AIC) may be the initial finding, which makes diagnosis a challenge. We aimed to evaluate the clinical course, laboratory findings, and treatment response of AIC in children with IEI.; Methods: Data of children with autoimmune hemolytic anemia (AIHA) and/or immune thrombocytopenic purpura (ITP) were obtained from a retrospective chart review of IEI patients diagnosed and followed in our center. Demographic and clinical features and therapeutic outcomes were evaluated. Immunologic findings were compared between patients with AIHA, ITP, and Evans syndrome (ES). The patients were also divided into two subgroups based on the presence or absence of immune dysregulation diseases (IDDs), and all data were compared between these two groups.; Results: Out of 562 patients with IEI, 6% (n: 34) had AIC which were ITP (23.5%), AIHA (35.5%), and ES (41.2%). AIC was the initial finding in 50% of these 34 patients. Patients with ES had a higher mean percentage of CD8+ T lymphocytes than ITP patients (40.77 ± 20.21% vs. 22.33 ± 12.48%, p = 0.011). Patients with IDDs were more likely to develop ES (p = 0.004), lymphoproliferation (p = 0.005), and resistance to first-line therapy (p = 0.021) than other IEI groups.; Conclusion: This study shows that AIC may be the initial finding of IEI, particularly when lymphoproliferation and resistance to first-line therapy co-occur. Therefore, detailed investigation should be offered to all patients to avoid diagnostic delay.; (© 2023 S. Karger AG, Basel.) |
| Contributed Indexing: | Keywords: Autoimmunity; Cytopenia; Immune dysregulation; Primary immunodeficiency |
| SCR Disease Name: | Evans Syndrome |
| Entry Date(s): | Date Created: 20231228 Date Completed: 20240417 Latest Revision: 20240417 |
| Update Code: | 20260130 |
| DOI: | 10.1159/000535258 |
| PMID: | 38154455 |
| Database: | MEDLINE |
Journal Article