Cutaneous Vasculitis and Recurrent Infection Caused by Deficiency in Complement Factor I
Cutaneous leukocytoclastic vasculitis arises from immune complex deposition and dysregulated complement activation in small blood vessels. There are many causes, including dysregulated host response to infection, drug reactions, and various autoimmune conditions. It is increasingly recognised that s...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2018-04-01
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| Series: | Frontiers in Immunology |
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| Online Access: | http://journal.frontiersin.org/article/10.3389/fimmu.2018.00735/full |
| _version_ | 1819231215480209408 |
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| author | Sira Nanthapisal Sira Nanthapisal Despina Eleftheriou Kimberly Gilmour Valentina Leone Radhika Ramnath Ebun Omoyinmi Ying Hong Nigel Klein Paul A. Brogan |
| author_facet | Sira Nanthapisal Sira Nanthapisal Despina Eleftheriou Kimberly Gilmour Valentina Leone Radhika Ramnath Ebun Omoyinmi Ying Hong Nigel Klein Paul A. Brogan |
| author_sort | Sira Nanthapisal |
| collection | DOAJ |
| description | Cutaneous leukocytoclastic vasculitis arises from immune complex deposition and dysregulated complement activation in small blood vessels. There are many causes, including dysregulated host response to infection, drug reactions, and various autoimmune conditions. It is increasingly recognised that some monogenic autoinflammatory diseases cause vasculitis, although genetic causes of vasculitis are extremely rare. We describe a child of consanguineous parents who presented with chronic cutaneous leukocytoclastic vasculitis, recurrent upper respiratory tract infection, and hypocomplementaemia. A homozygous p.His380Arg mutation in the complement factor I (CFI) gene CFI was identified as the cause, resulting in complete absence of alternative complement pathway activity, decreased classical complement activity, and low levels of serum factor I, C3, and factor H. C4 and C2 levels were normal. The same homozygous mutation and immunological defects were also identified in an asymptomatic sibling. CFI deficiency is thus now added to the growing list of monogenic causes of vasculitis and should always be considered in vasculitis patients found to have persistently low levels of C3 with normal C4. |
| first_indexed | 2024-12-23T11:41:25Z |
| format | Article |
| id | doaj.art-b95e5d271b6445569ba644379ddab526 |
| institution | Directory Open Access Journal |
| issn | 1664-3224 |
| language | English |
| last_indexed | 2024-12-23T11:41:25Z |
| publishDate | 2018-04-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Immunology |
| spelling | doaj.art-b95e5d271b6445569ba644379ddab5262022-12-21T17:48:29ZengFrontiers Media S.A.Frontiers in Immunology1664-32242018-04-01910.3389/fimmu.2018.00735363903Cutaneous Vasculitis and Recurrent Infection Caused by Deficiency in Complement Factor ISira Nanthapisal0Sira Nanthapisal1Despina Eleftheriou2Kimberly Gilmour3Valentina Leone4Radhika Ramnath5Ebun Omoyinmi6Ying Hong7Nigel Klein8Paul A. Brogan9Infection Inflammation and Rheumatology Section, Great Ormond Street Institute of Child Health, University College London, Great Ormond Street Hospital NHS Foundation Trust, London, United KingdomDepartment of Pediatrics, Faculty of Medicine, Thammasat University, Pathumthani, ThailandInfection Inflammation and Rheumatology Section, Great Ormond Street Institute of Child Health, University College London, Great Ormond Street Hospital NHS Foundation Trust, London, United KingdomGreat Ormond Street Hospital NHS Foundation Trust, London, United KingdomDepartment of Paediatric Rheumatology, Leeds Teaching Hospitals NHS Trust, Leeds, United KingdomDepartment of Histopathology, St. James University Hospital, Leeds, United KingdomInfection Inflammation and Rheumatology Section, Great Ormond Street Institute of Child Health, University College London, Great Ormond Street Hospital NHS Foundation Trust, London, United KingdomInfection Inflammation and Rheumatology Section, Great Ormond Street Institute of Child Health, University College London, Great Ormond Street Hospital NHS Foundation Trust, London, United KingdomInfection Inflammation and Rheumatology Section, Great Ormond Street Institute of Child Health, University College London, Great Ormond Street Hospital NHS Foundation Trust, London, United KingdomInfection Inflammation and Rheumatology Section, Great Ormond Street Institute of Child Health, University College London, Great Ormond Street Hospital NHS Foundation Trust, London, United KingdomCutaneous leukocytoclastic vasculitis arises from immune complex deposition and dysregulated complement activation in small blood vessels. There are many causes, including dysregulated host response to infection, drug reactions, and various autoimmune conditions. It is increasingly recognised that some monogenic autoinflammatory diseases cause vasculitis, although genetic causes of vasculitis are extremely rare. We describe a child of consanguineous parents who presented with chronic cutaneous leukocytoclastic vasculitis, recurrent upper respiratory tract infection, and hypocomplementaemia. A homozygous p.His380Arg mutation in the complement factor I (CFI) gene CFI was identified as the cause, resulting in complete absence of alternative complement pathway activity, decreased classical complement activity, and low levels of serum factor I, C3, and factor H. C4 and C2 levels were normal. The same homozygous mutation and immunological defects were also identified in an asymptomatic sibling. CFI deficiency is thus now added to the growing list of monogenic causes of vasculitis and should always be considered in vasculitis patients found to have persistently low levels of C3 with normal C4.http://journal.frontiersin.org/article/10.3389/fimmu.2018.00735/fullcomplement factor Ivasculitisinfectioncomplement deficiencyautoinflammation |
| spellingShingle | Sira Nanthapisal Sira Nanthapisal Despina Eleftheriou Kimberly Gilmour Valentina Leone Radhika Ramnath Ebun Omoyinmi Ying Hong Nigel Klein Paul A. Brogan Cutaneous Vasculitis and Recurrent Infection Caused by Deficiency in Complement Factor I Frontiers in Immunology complement factor I vasculitis infection complement deficiency autoinflammation |
| title | Cutaneous Vasculitis and Recurrent Infection Caused by Deficiency in Complement Factor I |
| title_full | Cutaneous Vasculitis and Recurrent Infection Caused by Deficiency in Complement Factor I |
| title_fullStr | Cutaneous Vasculitis and Recurrent Infection Caused by Deficiency in Complement Factor I |
| title_full_unstemmed | Cutaneous Vasculitis and Recurrent Infection Caused by Deficiency in Complement Factor I |
| title_short | Cutaneous Vasculitis and Recurrent Infection Caused by Deficiency in Complement Factor I |
| title_sort | cutaneous vasculitis and recurrent infection caused by deficiency in complement factor i |
| topic | complement factor I vasculitis infection complement deficiency autoinflammation |
| url | http://journal.frontiersin.org/article/10.3389/fimmu.2018.00735/full |
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