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.

Efficacy of Targeted Complement Inhibition in Experimental C3 Glomerulopathy.

Ruseva MM, Peng T, Lasaro MA, et al.

Journal of the American Society of Nephrology : JASN 2016; (27(2)):405-16 doi:10.1681/ASN.2014121195.

Deficiency of the Complement Component 3 but Not Factor B Aggravates Staphylococcus aureus Septic Arthritis in Mice.

Na M, Jarneborn A, Ali A, et al.

Infection and immunity 2016; (84(4)):930-939 doi:10.1128/IAI.01520-15.

Skipping of exon 27 in C3 gene compromises TED domain and results in complete human C3 deficiency.

da Silva KR, Fraga TR, Lucatelli JF, et al.

Immunobiology 2016; (221(5)):641-9.

Infections Revealing Complement Deficiency in Adults: A French Nationwide Study Enrolling 41 Patients.

Audemard-Verger A, Descloux E, Ponard D, et al.

Medicine 2016; (95(19)):e3548 doi:10.1097/MD.0000000000003548.

Complement component C3 - The "Swiss Army Knife" of innate immunity and host defense.

Ricklin D, Reis ES, Mastellos DC, et al.

Immunological reviews 2016; (274(1)):33-58 doi:10.1111/imr.12500.

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.

Functional Complement Analysis Can Predict Genetic Testing Results and Long-Term Outcome in Patients With Complement Deficiencies.

Blazina Š, Debeljak M, Košnik M, et al.

Frontiers in immunology 2018; (9()):500 doi:10.3389/fimmu.2018.00500.

C1q restrains autoimmunity and viral infection by regulating CD8+ T cell metabolism.

Ling GS, Crawford G, Buang N, et al.

Science (New York, N.Y.) 2018; (360(6388)):558-563 doi:10.1126/science.aao4555.

Membranoproliferative glomerulonephritis and C3 glomerulopathy in children: change in treatment modality? A report of a case series.

Spartà G, Gaspert A, Neuhaus TJ, et al.

Clinical kidney journal 2018; (11(4)):479-490 doi:10.1093/ckj/sfy006.

Safety profile after prolonged C3 inhibition.

Reis ES, Berger N, Wang X, et al.

Clinical immunology (Orlando, Fla.) 2018; (197()):96-106 doi:10.1016/j.clim.2018.09.004.

Cutaneous Vasculitis and Digital Ischaemia Caused by Heterozygous Gain-of-Function Mutation in C3.

Omoyinmi E, Mohamoud I, Gilmour K, et al.

Frontiers in immunology 2018; (9()):2524 doi:10.3389/fimmu.2018.02524.

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.

Absence of complement component 3 does not prevent classical pathway-mediated hemolysis.

Zhang L, Dai Y, Huang P, et al.

Blood advances 2019; (3(12)):1808-1814 doi:10.1182/bloodadvances.2019031591.

Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies.

El Sissy C, Rosain J, Vieira-Martins P, et al.

Frontiers in immunology 2019; (10()):1936 doi:10.3389/fimmu.2019.01936.

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.

Clinical Complement Analysis-An Overview.

Skattum L

Transfusion medicine reviews 2019; (33(4)):207-216 doi:10.1016/j.tmrv.2019.09.001.

Successful simultaneous liver-kidney transplantation for renal failure associated with hereditary complement C3 deficiency.

Nayagam JS, McGrath S, Montasser M, et al.

American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons 2020; (20(8)):2260-2263 doi:10.1111/ajt.15785.

Utilization of complement receptors in immune cell-microbe interaction.

Lukácsi S, Mácsik-Valent B, Nagy-Baló Z, et al.

FEBS letters 2020; (594(16)):2695-2713 doi:10.1002/1873-3468.13743.

European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management.

Brodszki N, Frazer-Abel A, Grumach AS, et al.

Journal of clinical immunology 2020; (40(4)):576-591 doi:10.1007/s10875-020-00754-1.

Failure of immunological competence: when to suspect?

Pinto-Mariz F

Jornal de pediatria 2021; (97 Suppl 1()):S34-S38 doi:10.1016/j.jped.2020.10.007.

Combined liver-kidney transplantation for rare diseases.

Knotek M, Novak R, Jaklin-Kekez A, Mrzljak A

World journal of hepatology 2020; (12(10)):722-737 doi:10.4254/wjh.v12.i10.722.

Inborn Errors of Immunity: how to diagnose them?

Grumach AS, Goudouris ES

Jornal de pediatria 2021; (97 Suppl 1()):S84-S90 doi:10.1016/j.jped.2020.11.007.

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.

Lupus manifestations in children with primary immunodeficiency diseases: Comprehensive phenotypic and genetic features and outcome.

Al-Mayouf SM, Alreefi HA, Alsinan TA, et al.

Modern rheumatology 2021; (31(6)):1171-1178 doi:10.1080/14397595.2021.1886627.

Long-term follow-up including extensive complement analysis of a pediatric C3 glomerulopathy cohort.

Michels MAHM, Wijnsma KL, Kurvers RAJ, et al.

Pediatric nephrology (Berlin, Germany) 2022; (37(3)):601-612 doi:10.1007/s00467-021-05221-6.

The Spectrum of Inborn Errors of Immunity in the United Arab Emirates: 5 Year Experience in a Tertiary Center.

Shendi HM, Al Kuwaiti AA, Al Dhaheri AD, Al-Hammadi S

Frontiers in immunology 2022; (13()):837243 doi:10.3389/fimmu.2022.837243.

Complement Genetics for the Practicing Allergist Immunologist: Focus on Complement Deficiencies.

Szilágyi Á, Csuka D, Geier CB, Prohászka Z

The journal of allergy and clinical immunology. In practice 2022; (10(7)):1703-1711 doi:10.1016/j.jaip.2022.02.036.

Diagnostic Modalities in Primary Immunodeficiency.

Raymond LS, Leiding J, Forbes-Satter LR

Clinical reviews in allergy & immunology 2022; (63(1)):90-98 doi:10.1007/s12016-022-08933-1.

Serum complements and immunoglobulin profiles in systemic lupus erythematosus patients: An observational study at a teaching hospital.

Rana RS, Naik B, Yadav M, et al.

Journal of family medicine and primary care 2022; (11(2)):608-613 doi:10.4103/jfmpc.jfmpc_960_21.

Take a Leap of Faith: Implement Routine Genetic Testing in Your Office.

Convers KD, Slack M, Kanarek HJ

The journal of allergy and clinical immunology. In practice 2022; (10(7)):1676-1687 doi:10.1016/j.jaip.2022.05.017.

The yin and the yang of early classical pathway complement disorders.

Sullivan KE

Clinical and experimental immunology 2022; (209(2)):151-160 doi:10.1093/cei/uxac056.

C3-dependent effector functions of complement.

Zarantonello A, Revel M, Grunenwald A, Roumenina LT

Immunological reviews 2023; (313(1)):120-138 doi:10.1111/imr.13147.

Recurrent pyogenic infections caused by a novel Gln1420* mutation in the C3 gene.

Coelho PS, Gouveia C, Pinto MV, et al.

Frontiers in pediatrics 2022; (10()):1017195 doi:10.3389/fped.2022.1017195.

Purified complement C3b triggers phagocytosis and activation of human neutrophils via complement receptor 1.

Boero E, Gorham RD, Francis EA, et al.

Scientific reports 2023; (13(1)):274 doi:10.1038/s41598-022-27279-4.

Disseminating MSSA Infection in a Preterm Infant With Rare Finding of Spinal Epidural Abscess: A Case Report.

Huneycutt TM, Carlson C, Newberry DM

Advances in neonatal care : official journal of the National Association of Neonatal Nurses 2023; (23(4)):330-337 doi:10.1097/ANC.0000000000001067.

[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.

The first case report of complement component 7 deficiency in Qatar and a 10-year follow-up.

Khalil SM, Aqel S, Mudawi DS, et al.

Frontiers in immunology 2023; (14()):1253301 doi:10.3389/fimmu.2023.1253301.

Monogenic Inborn Errors of Immunity with impaired IgG response to polysaccharide antigens but normal IgG levels and normal IgG response to protein antigens.

Fasshauer M, Dinges S, Staudacher O, et al.

Frontiers in pediatrics 2024; (12()):1386959 doi:10.3389/fped.2024.1386959.

Case Report: C3 deficiency in two siblings.

Bernacchia A, Ginaca A, Rotondo S, et al.

Frontiers in pediatrics 2024; (12()):1424380 doi:10.3389/fped.2024.1424380.

Genetic Counseling in Pediatric Inborn Errors of Immunity: Perspective Piece on Current Practice and Considerations.

DeBortoli E, McInerney-Leo A, Macintosh R, et al.

The journal of allergy and clinical immunology. In practice 2025; (13(8)):1918-1927 doi:10.1016/j.jaip.2025.03.052.

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.

"It's a Godsend": Parental experiences of genomic testing for paediatric inborn errors of immunity.

Clark A, DeBortoli E, Blancoe M, et al.

European journal of human genetics : EJHG 2025; (33(10)):1342-1349 doi:10.1038/s41431-025-01917-7.

Acute Kidney Injury Associated With Isolated C3 Complement Deficiency Following Hemorrhagic Ovarian Cyst Rupture: A Report of a Rare Case.

Uygun İlikhan S, Güneş C, Kılınç S, et al.

Cureus 2025; (17(8)):e90874 doi:10.7759/cureus.90874.

Complement activation and humoral immune dysregulation drive progression of pediatric septic shock: a retrospective cohort study.

Xu P, Zhou J, Miao H, Liu Y

American journal of translational research 2025; (17(9)):7321-7332 doi:10.62347/HSVN8159.

Use of the GSK MenACWY-CRM/MenB-4C Pentavalent Meningococcal Vaccine Among Persons Aged ≥10 Years: Recommendations of the Advisory Committee on Immunization Practices - United States, 2025.

Amin AB, Collins JP, Dong X, et al.

MMWR. Morbidity and mortality weekly report 2026; (75(1)):7-14 doi:10.15585/mmwr.mm7501a2.

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.

Homozygous C1qA Deficiency Presenting as Early-Onset Systemic Lupus Erythematosus: A Case Report With a Literature Review.

Mottaghipisheh H, Jahromi AM, Mirzaei F, et al.

Case reports in immunology 2026; (2026()):4667037 doi:10.1155/crii/4667037.

Inborn errors of immunity: a structured model for paediatric-to-adult transition of care.

Civino A, Diomeda F, D'Orio C, et al.

Frontiers in immunology 2026; (17()):1813944 doi:10.3389/fimmu.2026.1813944.

Deposits of C3 glomerulopathies have ultrastructural hints to correlate with immunofluorescent findings.

Schukow CP, Blatt NB, Kanaan HD, et al.

Ultrastructural pathology 2026; (50(3)):321-328 doi:10.1080/01913123.2026.2682586.

Patient and caregiver perspectives on transition from pediatric to adult care in inborn errors of immunity: a Polish multicenter survey.

Będzichowska A, Tomaszewska A, Napiórkowska-Baran K, et al.

Frontiers in immunology 2026; (17()):1816943 doi:10.3389/fimmu.2026.1816943.

Case Report: A novel homozygous splice-site variant in the C3 gene causing complete complement C3 deficiency in two unrelated Moroccan patients.

Oujane C, Hbibi M, Benhsaien I, et al.

Frontiers in immunology 2026; (17()):1860941 doi:10.3389/fimmu.2026.1860941.

Shared Decision-Making and Health-Related Quality of Life in the Diagnosis and Management of Patients With Inborn Errors of Immunity.

Lawrence MG, Kim VHD, Orange JS, Scherzer R

The journal of allergy and clinical immunology. In practice 2026; doi:10.1016/j.jaip.2026.07.010.

Clinical and population genetic insights into primary complement component 2 (C2) deficiency: A founder variant in Ashkenazi Jews.

Shamriz O, Molho-Pessach V, Benshushan S, et al.

Clinical immunology (Orlando, Fla.) 2026; (287()):110758 doi:10.1016/j.clim.2026.110758.

Designing an integrated data model for prospective genotype-phenotype in inborn errors of immunity research.

Ahmed M, Bousfiha AA, Almarzooqi F

Frontiers in immunology 2026; (17()):1838940 doi:10.3389/fimmu.2026.1838940.

C3 glomerulonephritis with genetically confirmed C3 deficiency in a pediatric patient: a case report.

Kim HM, Shin JI, Kim JH, et al.

Childhood kidney diseases 2024; (28(3)):124-130 doi:10.3339/ckd.24.015.