Molecular characterization of two novel cases of complete complement inhibitor Factor I deficiency

Nita, Gelu M.; Genel, Ferah; Nilsson, Sara C.; Smart, Joanne; Truedsson, Lennart; Choo, Sharon; Blom, Anna M.

doi:10.1016/j.molimm.2011.01.012

Cited by 19 publications

(6 citation statements)

References 26 publications

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“…Mutations in this exon may result in severe truncation of CFI and are probably not secreted. Such truncated CFI completely lacks the serine protease domain and cannot act as a protease [ 17 ].…”

Section: Discussionmentioning

confidence: 99%

A novel missense mutation in complement factor I predisposes patients to atypical hemolytic uremic syndrome: a case report

Wei

Zhan

et al. 2022

J Med Case Reports

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Background Atypical hemolytic uremic syndrome, also called the nondiarrheal form of hemolytic uremic syndrome, is a rare disease characterized by the triad of thrombocytopenia, Coomb’s test-negative microangiopathic hemolytic anemia, and acute renal failure. Approximately 60% of cases of atypical hemolytic uremic syndrome are associated with deficiencies of the complement regulatory protein, including mutations in complement factor H, complement factor I, or the membrane co-factor protein. Case presentation We report the case of a 26-year-old Asian man who presented with pulmonary infection, elevated blood pressure, microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure. Renal biopsy revealed diffuse capillary fibrin deposition, endothelial swelling, and arteriole narrowing like “onion skinning” consistent with thrombotic microangiopathy. Bidirectional sequencing of CFH, CFHR5, CFHR1, CFI, DGKE, CFB, and MCP confirmed that the patient was heterozygous for a novel missense mutation, p.Cys67Phe, in CFI. This patient had rapid evolution to end-stage renal disease and needed renal replacement therapy. Plasma exchange seemed inefficacious in this patient. Conclusions This report confirms the importance of screening patients with atypical hemolytic uremic syndrome for mutations in genes involved in complement system to clarify the diagnosis and demonstrates the challenges in the management of these patients.

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Section: Discussionmentioning

confidence: 99%

A novel missense mutation in complement factor I predisposes patients to atypical hemolytic uremic syndrome: a case report

Wei

Zhan

et al. 2022

J Med Case Reports

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“…Persistently low C3 with normal C4 levels in our homozygous siblings suggests that the classical pathway was less compromised than the alternative pathway. This observation is explained by the fact that the classical pathway only requires very low concentrations (<0.1%) of its components to operate, whereas the alternative pathway requires higher concentrations (>5%) ( 39 ); hence, whilst CFI deficiency results in severe dysregulation of both alternative and classical pathways, the classical pathway is less affected and retains some function.…”

Section: Discussionmentioning

confidence: 99%

Cutaneous Vasculitis and Recurrent Infection Caused by Deficiency in Complement Factor I

et al. 2018

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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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“…Останні, що викликані збудником Neisseria, спостерігаються й при дефіцитах системи комплементу [65][66][67]71]. При де-фектах імунної регуляції та автозапальних захворю-ваннях частіше мають місце асептичні артрити, зокре-ма ЮІА, РА [42,43,[53][54][55][56][57][58][59][60][61][62][63].…”

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Артрити При Первинних Імунодефіцитах

Boyarchuk¹,

Volianska²,

Kovalchuk³

et al. 2021

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У статті розглядаються питання ураження суглобів у пацієнтів з первинними імунодефіцитами. На основі аналізу літературних джерел із баз даних Scopus, РІНЦ, Google Scholar, PubMed виділено первинні імунодефіцити, при яких описані ураження суглобів. Артрити при первинних імунодефіцитах можуть бути як септичного, так і асептичного характеру. Хронічний перебіг артриту з приєднанням автоімунних механізмів та розвитком деструктивних змін у суглобі в таких пацієнтів завжди є викликом для лікаря та зумовлює труднощі в діагностиці й лікуванні, вимагає виваженого підходу до призначення терапії.

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Molecular characterization of two novel cases of complete complement inhibitor Factor I deficiency

Cited by 19 publications

References 26 publications

A novel missense mutation in complement factor I predisposes patients to atypical hemolytic uremic syndrome: a case report

A novel missense mutation in complement factor I predisposes patients to atypical hemolytic uremic syndrome: a case report

Cutaneous Vasculitis and Recurrent Infection Caused by Deficiency in Complement Factor I

Артрити При Первинних Імунодефіцитах

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