ORPHA:200418
Immunodeficiency with factor I anomaly
Also known as: Complete factor I deficiency
Publications
84
52.7th percentile
Trials
0
Interventional, condition-specific
Researchers
802
Distinct authors in sample
Gene link
CFI
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent, usually severe, infections (particularly by Neisseria meningitidis, Haemophilus influenzae and Streptococcus pneumoniae), typically manifesting as otitis, sinusitis, bronchitis, pneumonia, and/or meningitis. Autoimmune disease (e.g. systemic lupus erythematosus, glomerulonephritis) and atypical hemolytic uremic syndrome may be associated. Laboratory serum analysis reveals, in addition to diminished or undetectable complement factor I, variably decreased complement C3, complement factor B and complement factor H.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012594
- MeSH:C572568
- OMIM:610984
- UMLS:C3463916
Additional Mondo synonyms (3)
C3 inactivator deficiency · complement component 3 inactivator deficiency · complement factor I deficiency
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — CFI
- LiteraturePresent
84 matched papers (48 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (CFI).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
84
84 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
84 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
48 in the last 10 years · high confidence · 52.7th percentile (publications denominator)
Phrase hits: 84 · MeSH hits: 1
Who's working on it?
802
Distinct author names in 84 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Frémeaux-Bacchi V5 papers · 2023
Assistance Publique - Hôpitaux de Paris (AP-HP), Laboratoire d'Immunologie, Hôpital Européen Georges-Pompidou, Paris, France.
Papers in Europe PMC - 02López-Trascasa M4 papers · 2014
Unidad de Inmunología, IdiPAZ, Hospital Universitario La Paz, Madrid 28046, Spain; Centro de Investigación Biomédica en Red (CIBERER U754), Madrid, Spain. Electronic address: mltrascasa@salud.madrid.org.
Papers in Europe PMC - 03Chen S3 papers · 2023
School of Chemistry and Chemical Engineering, Harbin Institute of Technology, Harbin, Heilongjiang, 150001, China.
Papers in Europe PMC - 04Gong P3 papers · 2023
College of Food Science and Engineering, Ocean University of China, Qingdao, 266003, China.
Papers in Europe PMC - 05Han X3 papers · 2023
School of Chemistry and Chemical Engineering, Harbin Institute of Technology, Harbin, Heilongjiang, 150001, China.
Papers in Europe PMC - 06Lyu L3 papers · 2023
School of Chemistry and Chemical Engineering, Harbin Institute of Technology, Harbin, Heilongjiang, 150001, China.
Papers in Europe PMC - 07Mrabet S3 papers · 2025
Department of Nephrology, Dialysis, and Transplantation, Université de Sousse, Faculté de Médecine de Sousse, Hôpital Sahloul, Sousse, Tunisia.
Papers in Europe PMC - 08Niu H3 papers · 2023
School of Chemistry and Chemical Engineering, Harbin Institute of Technology, Harbin, Heilongjiang, 150001, China.
Papers in Europe PMC - 09Rasmussen JM3 papers · 1997Papers in Europe PMC
- 10Sahtout W3 papers · 2025
Department of Nephrology, Dialysis, and Transplantation, Université de Sousse, Faculté de Médecine de Sousse, Hôpital Sahloul, Sousse, Tunisia.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
2 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Immunodeficiency with factor I anomaly" OR "Complete factor I deficiency" OR "C3 inactivator deficiency" OR "complement component 3 inactivator deficiency" OR "complement factor I deficiency"
MeSH descriptor terms unioned into the query: Complement Factor I Deficiency
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Immunodeficiency with factor I anomaly" OR "Complete factor I deficiency" OR "C3 inactivator deficiency" OR "complement component 3 inactivator deficiency" OR "complement factor I deficiency" OR "CFI"
Recall-expansion terms: CFI
Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T09:16:05.838Z