RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:200418

Immunodeficiency with factor I anomaly

high confidenceDisorder

Also known as: Complete factor I deficiency

Publications

104

51.1th percentile

Trials

0

Interventional, condition-specific

Researchers

802

Distinct authors in sample

Gene link

CFI

Strong

Readiness

3/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

3/6 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.

  1. Gene identifiedPresent

    Strong — CFI

  2. LiteraturePresent

    104 matched papers (65 in last 10 years) Source

  3. Phenotype characterisedPresent

    17 HPO annotations (e.g. Septic arthritis; Recurrent Neisseria meningitidis infection; Recurrent meningitis) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

17

Associated phenotypes · MONDO:0012594

  • Septic arthritis
  • Recurrent Neisseria meningitidis infection
  • Recurrent meningitis
  • Glomerulonephritis
  • Decreased circulating complement C3 concentration

Showing 5 of 17 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

104

104 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=3967) is 59.

104 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

65 in the last 10 years · high confidence · 51.1th percentile (publications denominator)

Phrase hits: 84 · MeSH hits: 1

Open Europe PMC search

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.

  1. 01
    Frémeaux-Bacchi V5 papers · 2023

    Assistance Publique - Hôpitaux de Paris (AP-HP), Laboratoire d'Immunologie, Hôpital Européen Georges-Pompidou, Paris, France.

    Papers in Europe PMC
  2. 02
    López-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
  3. 03
    Chen S3 papers · 2023

    School of Chemistry and Chemical Engineering, Harbin Institute of Technology, Harbin, Heilongjiang, 150001, China.

    Papers in Europe PMC
  4. 04
    Gong P3 papers · 2023

    College of Food Science and Engineering, Ocean University of China, Qingdao, 266003, China.

    Papers in Europe PMC
  5. 05
    Han X3 papers · 2023

    School of Chemistry and Chemical Engineering, Harbin Institute of Technology, Harbin, Heilongjiang, 150001, China.

    Papers in Europe PMC
  6. 06
    Lyu L3 papers · 2023

    School of Chemistry and Chemical Engineering, Harbin Institute of Technology, Harbin, Heilongjiang, 150001, China.

    Papers in Europe PMC
  7. 07
    Mrabet 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
  8. 08
    Niu H3 papers · 2023

    School of Chemistry and Chemical Engineering, Harbin Institute of Technology, Harbin, Heilongjiang, 150001, China.

    Papers in Europe PMC
  9. 09
    Rasmussen JM3 papers · 1997
    Papers in Europe PMC
  10. 10
    Sahtout 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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

high confidence · 38.6th 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.

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 40 · after dedupe 40 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 40 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (40)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Immunodeficiency with factor I anomaly — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR (MESH:"Complement Factor I Deficiency") OR ("CFI syndrome" OR "CFI-related")

Run this search on Europe PMC

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"

Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; 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