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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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Autores principales: Nanthapisal, Sira, Eleftheriou, Despina, Gilmour, Kimberly, Leone, Valentina, Ramnath, Radhika, Omoyinmi, Ebun, Hong, Ying, Klein, Nigel, Brogan, Paul A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5904195/
https://www.ncbi.nlm.nih.gov/pubmed/29696024
http://dx.doi.org/10.3389/fimmu.2018.00735
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author Nanthapisal, Sira
Eleftheriou, Despina
Gilmour, Kimberly
Leone, Valentina
Ramnath, Radhika
Omoyinmi, Ebun
Hong, Ying
Klein, Nigel
Brogan, Paul A.
author_facet Nanthapisal, Sira
Eleftheriou, Despina
Gilmour, Kimberly
Leone, Valentina
Ramnath, Radhika
Omoyinmi, Ebun
Hong, Ying
Klein, Nigel
Brogan, Paul A.
author_sort Nanthapisal, Sira
collection PubMed
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.
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spelling pubmed-59041952018-04-25 Cutaneous Vasculitis and Recurrent Infection Caused by Deficiency in Complement Factor I Nanthapisal, Sira Eleftheriou, Despina Gilmour, Kimberly Leone, Valentina Ramnath, Radhika Omoyinmi, Ebun Hong, Ying Klein, Nigel Brogan, Paul A. Front Immunol Immunology 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. Frontiers Media S.A. 2018-04-11 /pmc/articles/PMC5904195/ /pubmed/29696024 http://dx.doi.org/10.3389/fimmu.2018.00735 Text en Copyright © 2018 Nanthapisal, Eleftheriou, Gilmour, Leone, Ramnath, Omoyinmi, Hong, Klein and Brogan. https://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Immunology
Nanthapisal, Sira
Eleftheriou, Despina
Gilmour, Kimberly
Leone, Valentina
Ramnath, Radhika
Omoyinmi, Ebun
Hong, Ying
Klein, Nigel
Brogan, Paul A.
Cutaneous Vasculitis and Recurrent Infection Caused by Deficiency in Complement Factor I
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 Immunology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5904195/
https://www.ncbi.nlm.nih.gov/pubmed/29696024
http://dx.doi.org/10.3389/fimmu.2018.00735
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