Human Inborn Errors of Immunity in Pyoderma Gangrenosum: A Systematic Review.
Background and Objective: Pyoderma gangrenosum (PG) is a rare ulcerative neutrophilic dermatosis that can be associated with primary immunodeficiency. The pathogenesis of PG has not yet been elucidated, although contributions from dysregulation of the immune system in patients with apparent genetic...
| Publicado en: | American Journal of Clinical Dermatology Vol. 25; no. 5; pp. 701 - 717 |
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| Autores principales: | , , , , , |
| Formato: | research systematic review tables/charts Journal Article |
| Publicado: |
Springer Nature
Sep2024
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=179295364&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 179295364 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 11750561 C4Q jtl: American Journal of Clinical Dermatology issn: 11750561 maglogo: N pubinfo: dt: Sep2024 vid: 25 iid: 5 pid: 237 pub: Springer Nature place: New York, New York artinfo: ui: 179295364 178174684 179295364 179295364 10.1007/s40257-024-00875-y 179295364 ppf: 701 ppct: 16 formats: tig: atl: Human Inborn Errors of Immunity in Pyoderma Gangrenosum: A Systematic Review. aug: au: Oprea, Yasmine Antohi, Daniel R. Vague, Morgan Delbourgo Patton, Caroline Wu, Benedict Ortega‐Loayza, Alex G. affil: https://ror.org/05cf8a891 Division of Dermatology, Department of Medicine, Albert Einstein College of Medicine/Montefiore Medical Center, Bronx, NY, USA sug: subj: Metabolism, Inborn Errors Immunity Pyoderma Gangrenosum Immunology Pyoderma Gangrenosum Physiopathology Pyoderma Gangrenosum Familial and Genetic Disease Attributes Severity of Illness Treatment Outcomes Human Systematic Review PubMed Medline Embase Cochrane Library Descriptive Statistics Mutation Pyoderma Gangrenosum Risk Factors Complement Intracellular Signaling Peptides and Proteins Proteins ab: Background and Objective: Pyoderma gangrenosum (PG) is a rare ulcerative neutrophilic dermatosis that can be associated with primary immunodeficiency. The pathogenesis of PG has not yet been elucidated, although contributions from dysregulation of the immune system in patients with apparent genetic predispositions have been postulated. We conducted a Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA)-guided systematic review with the objective of identifying inborn errors of immunity in the presence of PG as well as their clinical characteristics of severity including number of PG lesions and anatomic areas affected, and treatment outcomes. Methods: A literature search was performed using PubMed/MEDLINE, Embase, Cochrane Library, and Web of Science through August 24, 2023, for studies published in English using the search terms: "pyoderma gangrenosum," "inborn error of immunity," "immune defect*," and a list of genetic mutations potentially associated with PG. Results: Seventy-four cases of PG associated with inborn errors of immunity were identified. The results demonstrate an association of PG with a variety of inborn errors of immunity, including genetic mutations not classically associated with the condition. Genetic mutations such as BTK, IL1RN, ITGB2, LPIN2, MEFV, NFkB1, NLRP3, NLRP12, NOD2, PSMB8, PLCG2, PSTPIP1, RAG1, TTC37, and WDR1, as well as complement component 2/complement component 4 (C2/C4) and complement component 7 (C7) deficiencies were identified in the presence of either idiopathic or syndromic PG. Of note, mutations in genes such as PSMB8, NLRP3, and IL1RN were found to be associated with a more severe and atypical course of PG, whereas mutations in RAG1 as well as those causing a C2/C4 deficiency were associated with the mildest clinical presentations of PG. Mutations in NFkB1, ITGB2, and PSTPIP1 were associated with the most heterogeneous clinical presentations. Conclusions: Human inborn errors of immunity may be implicated in the genetic predisposition to PG and may influence the clinical presentation. Due to the rarity of these diseases, further work must be done to describe the association between inborn errors of immunity and PG. Identifying inborn errors of immunity that may contribute to the development of PG may assist in further elucidating the mechanism of PG, guiding targeted treatment, and improving clinical outcomes for these patients. pubtype: Academic Journal doctype: research systematic review tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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