ORPHA:169150
Immunodeficiency due to a late component of complement deficiency
Also known as: Immunodeficiency due to C5 to C9 component complement deficiency · Terminal complement pathway deficiency
Publications
7
23.5th percentile
Trials
0
Interventional, condition-specific
Researchers
47
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Immunodeficiency due to a late component of complement deficiency is a primary immunodeficiency due to an anomaly in either complement components C5, C6, C7, C8 or C9 and is typically characterized by meningitis due to often recurrent meningococcal infections. The prognosis is generally favorable.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0015700
- UMLS:C0398765
Additional Mondo synonyms (4)
deficiency of complement of terminal pathway · immunodeficiency due to C5 to C9 component complement deficiency · immunodeficiency due to a C5 to C9 component complement deficiency · terminal complement pathway 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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
7 matched papers (7 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 trialPartial
None under the specific name; 1 for broader category complement deficiency
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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
7
7 papers have ever been indexed 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.
7 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).
7 in the last 10 years · high confidence · 23.5th percentile (publications denominator)
Phrase hits: 7 · MeSH hits: 0
Who's working on it?
47
Distinct author names in 7 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.
- 01Deghmane AE2 papers · 2024
Institut Pasteur, Invasive Bacterial Infection and National Reference Center for Meningococci.
Papers in Europe PMC - 02Hong E2 papers · 2024
Institut Pasteur, Invasive Bacterial Infection and National Reference Center for Meningococci.
Papers in Europe PMC - 03Taha MK2 papers · 2024
Institut Pasteur, Invasive Bacterial Infection and National Reference Center for Meningococci.
Papers in Europe PMC - 04Bai X1 paper · 2019
Meningococcal Reference Unit, Public Health England, Manchester Royal Infirmary, Manchester, UK.
Papers in Europe PMC - 05Borrow R1 paper · 2019
Meningococcal Reference Unit, Public Health England, Manchester Royal Infirmary, Manchester, UK.
Papers in Europe PMC - 06Campbell H1 paper · 2019
Immunisation and Countermeasures Division, Public Health England, 61 Colindale Avenue, London, NW9 5EQ, UK.
Papers in Europe PMC - 07Clark SA1 paper · 2019
Meningococcal Reference Unit, Public Health England, Manchester Royal Infirmary, Manchester, UK.
Papers in Europe PMC - 08Corveleyn A1 paper · 2022
Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
Papers in Europe PMC - 09de Pontual L1 paper · 2017
Pediatric Department, Hôpitaux universitaires Paris Seine Saint Denis, AP-HP, Paris 13 University.
Papers in Europe PMC - 10Doucoure O1 paper · 2024
Institut Pasteur, Invasive Bacterial Infections, Université Paris Cité, 75015 Paris, France.
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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 1 trial are registered for complement deficiency, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
1 interventional trial matched complement deficiency, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: complement deficiency
1
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
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 due to a late component of complement deficiency" OR "Immunodeficiency due to a late component of the complement deficiency" OR "Immunodeficiency due to C5 to C9 component complement deficiency" OR "Terminal complement pathway deficiency" OR "deficiency of complement of terminal pathway" OR "deficiency of the complement of the terminal pathway" OR "immunodeficiency due to a C5 to C9 component complement deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Immunodeficiency due to a late component of complement deficiency" OR "Immunodeficiency due to a late component of the complement deficiency" OR "Immunodeficiency due to C5 to C9 component complement deficiency" OR "Terminal complement pathway deficiency" OR "deficiency of complement of terminal pathway" OR "deficiency of the complement of the terminal pathway" OR "immunodeficiency due to a C5 to C9 component complement deficiency"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"complement deficiency"
Query health: ok — strategies attempted: phrase; with hits: phrase
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 2026-07-27T08:36:11.479Z