Autoinflammation with arthritis and dyskeratosis an inflammasomopathy: Case report and review of literature
Inherited disorders of the inflammasome pathway causes dysregulated inflammasome activation, which presents with inflammation and other clinical features linked to the defective protein. Eight mutations have been previously described in the NLRP1 inflammasome protein, causing different inflammatory...
Saved in:
| Main Authors: | , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2022-01-01
|
| Series: | Indian Journal of Rheumatology |
| Subjects: | |
| Online Access: | http://www.indianjrheumatol.com/article.asp?issn=0973-3698;year=2022;volume=17;issue=1;spage=65;epage=68;aulast=Sureja |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1841561366795649024 |
|---|---|
| author | Nayan Patel Sureja Liza Rajasekhar |
| author_facet | Nayan Patel Sureja Liza Rajasekhar |
| author_sort | Nayan Patel Sureja |
| collection | DOAJ |
| description | Inherited disorders of the inflammasome pathway causes dysregulated inflammasome activation, which presents with inflammation and other clinical features linked to the defective protein. Eight mutations have been previously described in the NLRP1 inflammasome protein, causing different inflammatory skin disorders. Two of these mutations are associated with “autoinflammation with arthritis and dyskeratosis (AIADK),” a novel Mendelian auto-inflammatory disorder, in the 2017 International Union of Immunological Societies phenotypic classification for primary immunodeficiencies. We report a 22-year-old female, with recurrent generalized urticaria, periodic fever and pain abdomen, inflammatory polyarthritis, cutaneous lesions over the extremities, and persistently elevated inflammatory markers. On next-generation sequencing, a heterozygous missense mutation in exon 4 of the NLRP1 gene (chr17:G.5461839C>T) was detected, which results in the amino acid substitution of glutamine for arginine at codon 726 (c.2177G>A; p.Arg726Gln). A probable diagnosis of AIADK, possibly caused by this mutation was proposed, and patient responded well to colchicine. |
| format | Article |
| id | doaj-art-e99d15d65a4c42fbad60fd273824ef35 |
| institution | Kabale University |
| issn | 0973-3698 0973-3701 |
| language | English |
| publishDate | 2022-01-01 |
| publisher | SAGE Publishing |
| record_format | Article |
| series | Indian Journal of Rheumatology |
| spelling | doaj-art-e99d15d65a4c42fbad60fd273824ef352025-01-03T01:45:52ZengSAGE PublishingIndian Journal of Rheumatology0973-36980973-37012022-01-01171656810.4103/injr.injr_17_21Autoinflammation with arthritis and dyskeratosis an inflammasomopathy: Case report and review of literatureNayan Patel SurejaLiza RajasekharInherited disorders of the inflammasome pathway causes dysregulated inflammasome activation, which presents with inflammation and other clinical features linked to the defective protein. Eight mutations have been previously described in the NLRP1 inflammasome protein, causing different inflammatory skin disorders. Two of these mutations are associated with “autoinflammation with arthritis and dyskeratosis (AIADK),” a novel Mendelian auto-inflammatory disorder, in the 2017 International Union of Immunological Societies phenotypic classification for primary immunodeficiencies. We report a 22-year-old female, with recurrent generalized urticaria, periodic fever and pain abdomen, inflammatory polyarthritis, cutaneous lesions over the extremities, and persistently elevated inflammatory markers. On next-generation sequencing, a heterozygous missense mutation in exon 4 of the NLRP1 gene (chr17:G.5461839C>T) was detected, which results in the amino acid substitution of glutamine for arginine at codon 726 (c.2177G>A; p.Arg726Gln). A probable diagnosis of AIADK, possibly caused by this mutation was proposed, and patient responded well to colchicine.http://www.indianjrheumatol.com/article.asp?issn=0973-3698;year=2022;volume=17;issue=1;spage=65;epage=68;aulast=Surejaautoinflammatory syndromeinflammasomeinflammasomopathiesnlrp1primary immunodeficiency diseases |
| spellingShingle | Nayan Patel Sureja Liza Rajasekhar Autoinflammation with arthritis and dyskeratosis an inflammasomopathy: Case report and review of literature Indian Journal of Rheumatology autoinflammatory syndrome inflammasome inflammasomopathies nlrp1 primary immunodeficiency diseases |
| title | Autoinflammation with arthritis and dyskeratosis an inflammasomopathy: Case report and review of literature |
| title_full | Autoinflammation with arthritis and dyskeratosis an inflammasomopathy: Case report and review of literature |
| title_fullStr | Autoinflammation with arthritis and dyskeratosis an inflammasomopathy: Case report and review of literature |
| title_full_unstemmed | Autoinflammation with arthritis and dyskeratosis an inflammasomopathy: Case report and review of literature |
| title_short | Autoinflammation with arthritis and dyskeratosis an inflammasomopathy: Case report and review of literature |
| title_sort | autoinflammation with arthritis and dyskeratosis an inflammasomopathy case report and review of literature |
| topic | autoinflammatory syndrome inflammasome inflammasomopathies nlrp1 primary immunodeficiency diseases |
| url | http://www.indianjrheumatol.com/article.asp?issn=0973-3698;year=2022;volume=17;issue=1;spage=65;epage=68;aulast=Sureja |
| work_keys_str_mv | AT nayanpatelsureja autoinflammationwitharthritisanddyskeratosisaninflammasomopathycasereportandreviewofliterature AT lizarajasekhar autoinflammationwitharthritisanddyskeratosisaninflammasomopathycasereportandreviewofliterature |