Research & Literature

Case report: Benefits and challenges of long-term eculizumab in atypical hemolytic uremic syndrome.

Cullinan N, Gorman KM, Riordan M, et al.

Pediatrics 2015; (135(6)):e1506-9 doi:10.1542/peds.2014-3503.

Novel CFI mutation in a patient with leukocytoclastic vasculitis may redefine the clinical spectrum of Complement Factor I deficiency.

Bay JT, Katzenstein TL, Kofoed K, et al.

Clinical immunology (Orlando, Fla.) 2015; (160(2)):315-8.

Bacterial meningitis: an update of new treatment options.

Nau R, Djukic M, Spreer A, et al.

Expert review of anti-infective therapy 2015; (13(11)):1401-23 doi:10.1586/14787210.2015.1077700.

Clinical laboratory standard capillary protein electrophoresis alerted of a low C3 state and lead to the identification of a Factor I deficiency due to a novel homozygous mutation.

Franco-Jarava C, Colobran R, Mestre-Torres J, et al.

Immunology letters 2016; (174()):19-22.

Chromosomal rearrangement-A rare cause of complement factor I associated atypical haemolytic uraemic syndrome.

Gleeson PJ, Wilson V, Cox TE, et al.

Immunobiology 2016; (221(10)):1124-30.

[Hemolytic kidney failure and transient ischemic attack in a 32-year-old female].

Anders R, Grohmann M, Lindner TH, et al.

Der Internist 2016; (57(10)):1022-1028 doi:10.1007/s00108-016-0092-0.

Anti-complement-factor H-associated glomerulopathies.

Durey MA, Sinha A, Togarsimalemath SK, Bagga A

Nature reviews. Nephrology 2016; (12(9)):563-78 doi:10.1038/nrneph.2016.99.

Regulator-dependent mechanisms of C3b processing by factor I allow differentiation of immune responses.

Xue X, Wu J, Ricklin D, et al.

Nature structural & molecular biology 2017; (24(8)):643-651 doi:10.1038/nsmb.3427.

Experimental confirmation of the C3 tickover hypothesis by studies with an Ab (S77) that inhibits tickover in whole serum.

Lachmann PJ, Lay E, Seilly DJ

FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2018; (32(1)):123-129 doi:10.1096/fj.201700734.

Early Versus Late Diagnosis of Complement Factor I Deficiency: Clinical Consequences Illustrated in Two Families with Novel Homozygous CFI Mutations.

Franco-Jarava C, Álvarez de la Campa E, Solanich X, et al.

Journal of clinical immunology 2017; (37(8)):781-789 doi:10.1007/s10875-017-0447-x.

Atypical hemolytic-uremic syndrome due to complement factor I mutation.

Almalki AH, Sadagah LF, Qureshi M, et al.

World journal of nephrology 2017; (6(6)):243-250 doi:10.5527/wjn.v6.i6.243.

Complement C5a Receptor 1 Exacerbates the Pathophysiology of N. meningitidis Sepsis and Is a Potential Target for Disease Treatment.

Herrmann JB, Muenstermann M, Strobel L, et al.

mBio 2018; (9(1)) doi:10.1128/mBio.01755-17.

C3 glomerulonephritis secondary to mutations in factors H and I: rapid recurrence in deceased donor kidney transplant effectively treated with eculizumab.

Garg N, Zhang Y, Nicholson-Weller A, et al.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2018; (33(12)):2260-2265 doi:10.1093/ndt/gfx369.

A novel and sensitive functional assay for complement Factor I based on the third proteolytic clip of C3b.

Lachmann PJ, Lay E, Seilly DJ

Journal of immunological methods 2018; (457()):30-32 doi:10.1016/j.jim.2018.03.013.

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

Nanthapisal S, Eleftheriou D, Gilmour K, et al.

Frontiers in immunology 2018; (9()):735 doi:10.3389/fimmu.2018.00735.

C3 glomerulonephritis and thrombotic microangiopathy of renal allograft after pulmonary infection in a male with concomitant two complement factor I gene variations: a case report.

Wen J, Wang W, Xu F, et al.

BMC nephrology 2018; (19(1)):148 doi:10.1186/s12882-018-0952-z.

Inherited Classical and Alternative Pathway Complement Deficiencies in Children: A Single Center Experience.

Genel F, Erdem SB, Gülez N, et al.

Iranian journal of immunology : IJI 2018; (15(4)):309-320 doi:10.22034/IJI.2018.39400.

Seizure as the Presenting Symptom for Atypical Hemolytic Uremic Syndrome.

Chan S, Weinstein AR

The Journal of emergency medicine 2019; (56(4)):441-443 doi:10.1016/j.jemermed.2018.12.034.

A Randomized Phase 2 Study of an Anti-Amyloid β Monoclonal Antibody in Geographic Atrophy Secondary to Age-Related Macular Degeneration.

Rosenfeld PJ, Berger B, Reichel E, et al.

Ophthalmology. Retina 2018; (2(10)):1028-1040 doi:10.1016/j.oret.2018.03.001.

Multi-component meningococcal serogroup B (MenB)-4C vaccine induces effective opsonophagocytic killing in children with a complement deficiency.

van den Broek B, van Els CACM, Kuipers B, et al.

Clinical and experimental immunology 2019; (198(3)):381-389 doi:10.1111/cei.13368.

Complement factor I deficiency: A potentially treatable cause of fulminant cerebral inflammation.

Altmann T, Torvell M, Owens S, et al.

Neurology(R) neuroimmunology & neuroinflammation 2020; (7(3)) doi:10.1212/NXI.0000000000000689.

Functional Analysis of Rare Genetic Variants in Complement Factor I (CFI) using a Serum-Based Assay in Advanced Age-related Macular Degeneration.

Java A, Baciu P, Widjajahakim R, et al.

Translational vision science & technology 2020; (9(9)):37 doi:10.1167/tvst.9.9.37.

Meningococcal Vaccination: Recommendations of the Advisory Committee on Immunization Practices, United States, 2020.

Mbaeyi SA, Bozio CH, Duffy J, et al.

MMWR. Recommendations and reports : Morbidity and mortality weekly report. Recommendations and reports 2020; (69(9)):1-41 doi:10.15585/mmwr.rr6909a1.

Prevalence and phenotype associations of complement factor I mutations in geographic atrophy.

Khan AH, Sutton J, Cree AJ, et al.

Human mutation 2021; (42(9)):1139-1152 doi:10.1002/humu.24242.

Inherited defects in the complement system.

Leonardi L, La Torre F, Soresina A, et al.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2022; (33 Suppl 27()):73-76 doi:10.1111/pai.13635.

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

Wei X, Li J, Zhan X, et al.

Journal of medical case reports 2022; (16(1)):101 doi:10.1186/s13256-022-03312-y.

Rare complement factor I variants associated with reduced macular thickness and age-related macular degeneration in the UK Biobank.

Tzoumas N, Kavanagh D, Cordell HJ, et al.

Human molecular genetics 2022; (31(16)):2678-2692 doi:10.1093/hmg/ddac060.

Screening for Immunodeficiencies in Children With Invasive Pneumococcal Disease: Six-year Experience From a UK Children's Hospital.

Bijker EM, Bateman EAL, Trück J, et al.

The Pediatric infectious disease journal 2022; (41(7)):575-578 doi:10.1097/INF.0000000000003554.

Complement Factor I Variants in Complement-Mediated Renal Diseases.

Zhang Y, Goodfellow RX, Ghiringhelli Borsa N, et al.

Frontiers in immunology 2022; (13()):866330 doi:10.3389/fimmu.2022.866330.

Evaluating a Causal Relationship between Complement Factor I Protein Level and Advanced Age-Related Macular Degeneration Using Mendelian Randomization.

Jones AV, MacGregor S, Han X, et al.

Ophthalmology science 2022; (2(2)) doi:10.1016/j.xops.2022.100146.

Rapid genome sequencing identifies novel variants in complement factor I.

Rodriguez KM, Vaught J, Dilley M, et al.

Cold Spring Harbor molecular case studies 2022; (8(7)) doi:10.1101/mcs.a006239.

A novel method for real-time analysis of the complement C3b:FH:FI complex reveals dominant negative CFI variants in age-related macular degeneration.

Hallam TM, Cox TE, Smith-Jackson K, et al.

Frontiers in immunology 2022; (13()):1028760 doi:10.3389/fimmu.2022.1028760.

Rare Dysfunctional Complement Factor I Genetic Variants and Progression to Advanced Age-Related Macular Degeneration.

Seddon JM, Rosner B, De D, et al.

Ophthalmology science 2023; (3(2)):100265 doi:10.1016/j.xops.2022.100265.

Pearls & Oy-sters: Homozygous Complement Factor I Deficiency Presenting as Fulminant Relapsing Complement-Mediated CNS Vasculitis.

Levit E, Leon J, Lincoln MR

Neurology 2023; (101(2)):e220-e223 doi:10.1212/WNL.0000000000207079.

[Reducing the risk of infections in hereditary and acquired complement deficiencies.]

Karászi É, Onozó B, Kulcsár A, et al.

Orvosi hetilap 2023; (164(25)):971-980 doi:10.1556/650.2023.32798.

Complement factor I: Regulatory nexus, driver of immunopathology, and therapeutic.

Hallam TM, Sharp SJ, Andreadi A, Kavanagh D

Immunobiology 2023; (228(5)):152410 doi:10.1016/j.imbio.2023.152410.

Complement Factor I Gene Variant in an Atypical Hemolytic Uremic Syndrome Triggered by Hypereosinophilia Syndrome.

Banjongjit A, Kittanamongkolchai W, Kanjanabuch T

Nephron 2023; (147(11)):701-706 doi:10.1159/000531879.

Overlapping Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy with Mutation in CFI in a Japanese Patient: A Case Report.

Osawa K, Yamamoto S, Yamano Y, et al.

Internal medicine (Tokyo, Japan) 2024; (63(12)):1777-1782 doi:10.2169/internalmedicine.2713-23.

CNS Inflammation as the First Sign of Complement Factor I Deficiency: A Severe Myelitis Treated With Intense Immunotherapy and Eculizumab

Massey V, Nguyen CE, François T, et al.

Neurology(R) neuroimmunology & neuroinflammation 2024; (11(2)):e200191 doi:10.1212/NXI.0000000000200191.

Hot Spot of Complement Factor I Rare Variant p.Ile357Met in Patients With Hemolytic Uremic Syndrome.

Schwotzer N, Fakhouri F, Martins PV, et al.

American journal of kidney diseases : the official journal of the National Kidney Foundation 2024; (84(2)):244-249 doi:10.1053/j.ajkd.2023.12.021.

Functional evaluation of rare variants in complement factor I using a minigene assay.

Donelson CJH, Ghiringhelli Borsa N, Taylor AO, et al.

Frontiers in immunology 2024; (15()):1446081 doi:10.3389/fimmu.2024.1446081.

Pediatric Immunodeficiency Caused by Complement Classical and Alternative Pathway Defects Due to a Homozygous CFI Variant: A Case Report.

Wei J, Liu C, Tian M, et al.

Cureus 2025; (17(4)):e81827 doi:10.7759/cureus.81827.

Advancements in complement inhibition for PNH and primary complement-mediated thrombotic microangiopathy.

Padilla Kelley T, King H, Malhotra A, et al.

Blood advances 2025; (9(15)):3937-3945 doi:10.1182/bloodadvances.2024015777.

Complement factor I deficiency-associated neuroinflammatory disease among Old Order Amish.

Reid W, Baas L, Stiegler AL, et al.

The Journal of allergy and clinical immunology 2025; (156(3)):835-841 doi:10.1016/j.jaci.2025.06.021.

Complete recovery after complement factor I deficiency associated fulminant acute hemorrhagic leukoencephalitis: a case report.

Szumutku F, Szabó L, Liptai Z, et al.

Frontiers in immunology 2025; (16()):1586288 doi:10.3389/fimmu.2025.1586288.

Immunogenicity and safety of meningococcal vaccines, MenACWY-CRM and 4CMenB, in groups at increased risk for meningococcal disease.

Bobde S, Bhusal C, Cosgrove CA, Sohn WY

Expert review of vaccines 2025; (24(1)):656-667 doi:10.1080/14760584.2025.2536079.

Complete Complement Factor I (CFI) deficiency: a systematic review of forty-nine patients including three novel cases.

Rajabi E, Kheirabadi MC, Olyaei NA, et al.

BMC immunology 2025; (26(1)):54 doi:10.1186/s12865-025-00739-y.

Oral iptacopan therapy in patients with C3 glomerulopathy: a randomised, double-blind, parallel group, multicentre, placebo-controlled, phase 3 study.

Kavanagh D, Bomback AS, Vivarelli M, et al.

Lancet (London, England) 2025; (406(10512)):1587-1598 doi:10.1016/S0140-6736(25)01148-1.

Complement deficiencies and infections.

El Sissy C, Rosain J, Puel M, et al.

Current opinion in immunology 2026; (98()):102711 doi:10.1016/j.coi.2025.102711.

Recurrent Pneumococcal Meningitis From Post-traumatic Frontoethmoidal Encephalocele: A Case Report.

Mazen Y, Darweesh A, Al Ani M, et al.

Cureus 2025; (17(12)):e98862 doi:10.7759/cureus.98862.

Disseminated gonococcal infection secondary to a rare homozygous mutation resulting in complement factor I deficiency.

Almpani M, Welch G, Vanderleeden E, et al.

Journal of human immunity 2025; (1(3)):e20250088 doi:10.70962/jhi.20250088.

A young woman with membranoproliferative glomerulonephritis and persistent hypocomplementemia: a case report.

Li H, Jinpu L, Lan L, et al.

BMC nephrology 2026; (27(1)).

Pegcetacoplan Versus Iptacopan for the Treatment of Patients with C3 Glomerulopathy: Indirect Treatment Comparisons.

Dixon BP, Bomback AS, Rich C, et al.

Advances in therapy 2026; (43(8)):3385-3402 doi:10.1007/s12325-026-03614-3.

Geographic Atrophy in Patients with Age-Related Macular Degeneration Is Associated with Rare Variants in Complement Factor H and Complement Factor I.

de Breuk A, de Jong S, Bakker B, et al.

Ophthalmology science 2026; (6(6)):101171 doi:10.1016/j.xops.2026.101171.

Complement-targeted therapies for C3 glomerulopathy and atypical hemolytic uremic syndrome: a time-limited rapid systematic review with narrative synthesis.

Wu Q, Yu Z, Wu Z, et al.

Frontiers in medicine 2026; (13()):1867718 doi:10.3389/fmed.2026.1867718.

Long-term outcome of pediatric anti-complement factor H antibody-associated atypical hemolytic uremic syndrome receiving abbreviated plasma exchange: a retrospective study from a single center.

Vallabhaneni P, Dawman L, Rawat A, et al.

Journal of nephrology 2026; doi:10.1093/joneph/aajag189.

Serum Complement Component 4A and Neurofilament Light Chain Levels Before and After Risperidone Monotherapy in Patients With Psychosis.

Biradar RR, Gupta R, Srivastava S, Jain S

Human psychopharmacology 2026; (41(6)):e70065 doi:10.1002/hup.70065.

Complement Factor H Mutation-Associated Atypical Haemolytic Uraemic Syndrome Presenting With Dialysis-Dependent Renal Failure: A Case Report.

Jain A, Mohamed D, Satheesh Nair G, et al.

Cureus 2026; (18(9)):e117074 doi:10.7759/cureus.117074.