Immunogenetics of the Ocular Anterior Segment : Lessons from Inherited Disorders
Copyright © 2021 Jasmine Y. Serpen et al..
Autoimmune and autoinflammatory diseases cause morbidity in multiple organ systems including the ocular anterior segment. Genetic disorders of the innate and adaptive immune system present an avenue to study more common inflammatory disorders and host-pathogen interactions. Many of these Mendelian disorders have ophthalmic manifestations. In this review, we highlight the ophthalmic and molecular features of disorders of the innate immune system. A comprehensive literature review was performed using PubMed and the Online Mendelian Inheritance in Man databases spanning 1973-2020 with a focus on three specific categories of genetic disorders: RIG-I-like receptors and downstream signaling, inflammasomes, and RNA processing disorders. Tissue expression, clinical associations, and animal and functional studies were reviewed for each of these genes. These genes have broad roles in cellular physiology and may be implicated in more common conditions with interferon upregulation including systemic lupus erythematosus and type 1 diabetes. This review contributes to our understanding of rare inherited conditions with ocular involvement and has implications for further characterizing the effect of perturbations in integral molecular pathways.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2021 |
|---|---|
| Erschienen: |
2021 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:2021 |
|---|---|
| Enthalten in: |
Journal of ophthalmology - 2021(2021) vom: 07., Seite 6691291 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Serpen, Jasmine Y [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
|---|
| Anmerkungen: |
Date Revised 11.10.2021 published: Electronic-eCollection Citation Status PubMed-not-MEDLINE |
|---|
| doi: |
10.1155/2021/6691291 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM328036730 |
|---|
| LEADER | 01000naa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM328036730 | ||
| 003 | DE-627 | ||
| 005 | 20231225202110.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231225s2021 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1155/2021/6691291 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1093.xml |
| 035 | |a (DE-627)NLM328036730 | ||
| 035 | |a (NLM)34258050 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Serpen, Jasmine Y |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Immunogenetics of the Ocular Anterior Segment |b Lessons from Inherited Disorders |
| 264 | 1 | |c 2021 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Revised 11.10.2021 | ||
| 500 | |a published: Electronic-eCollection | ||
| 500 | |a Citation Status PubMed-not-MEDLINE | ||
| 520 | |a Copyright © 2021 Jasmine Y. Serpen et al. | ||
| 520 | |a Autoimmune and autoinflammatory diseases cause morbidity in multiple organ systems including the ocular anterior segment. Genetic disorders of the innate and adaptive immune system present an avenue to study more common inflammatory disorders and host-pathogen interactions. Many of these Mendelian disorders have ophthalmic manifestations. In this review, we highlight the ophthalmic and molecular features of disorders of the innate immune system. A comprehensive literature review was performed using PubMed and the Online Mendelian Inheritance in Man databases spanning 1973-2020 with a focus on three specific categories of genetic disorders: RIG-I-like receptors and downstream signaling, inflammasomes, and RNA processing disorders. Tissue expression, clinical associations, and animal and functional studies were reviewed for each of these genes. These genes have broad roles in cellular physiology and may be implicated in more common conditions with interferon upregulation including systemic lupus erythematosus and type 1 diabetes. This review contributes to our understanding of rare inherited conditions with ocular involvement and has implications for further characterizing the effect of perturbations in integral molecular pathways | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Review | |
| 700 | 1 | |a Armenti, Stephen T |e verfasserin |4 aut | |
| 700 | 1 | |a Prasov, Lev |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Journal of ophthalmology |d 2009 |g 2021(2021) vom: 07., Seite 6691291 |w (DE-627)NLM19656753X |x 2090-004X |7 nnns |
| 773 | 1 | 8 | |g volume:2021 |g year:2021 |g day:07 |g pages:6691291 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1155/2021/6691291 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 2021 |j 2021 |b 07 |h 6691291 | ||