ORPHA:676125
X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency
Also known as: DEX · Deficiency in ELF4, X-linked · X-AIDE · X-linked autoinflammatory and immunodeficiency disease associated with ELF4 · X-linked immune dysregulation with inflammatory bowel disease due to E74 like ETS transcription factor 4 deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase). Source fetch failed for trials.
Publications
18
34.8th percentile
Trials
—
Interventional, condition-specific
Researchers
126
Distinct authors in sample
Gene link
ELF4
Definitive
Readiness
2/6
Stages with a signal
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:0024770
- OMIM:301074
- UMLS:C5575495
Additional Mondo synonyms (3)
AIFBL2 · autoinflammatory syndrome, familial, X-linked, Behcet-like 2 · deficiency 1n ELF4, X-linked
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
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedPresent
Definitive — ELF4
- LiteraturePresent
18 matched papers (17 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 checked
Trial fetch failed or incomplete
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 (ELF4).
GenCC classification: Definitive.
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?
18
18 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.
18 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).
17 in the last 10 years · medium confidence · 34.8th percentile (publications denominator)
Phrase hits: 18 · MeSH hits: 0
Who's working on it?
126
Distinct author names in 18 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Du H6 papers · 2026
National Clinical Research Center for Child Health and Disorders (Chongqing), Children's Hospital of Chongqing Medical University, Chongqing, China. doctordo@aliyun.com.
Papers in Europe PMC - 02Zhao X5 papers · 2026
National Clinical Research Center for Child Health and Disorders (Chongqing), Children's Hospital of Chongqing Medical University, Chongqing, China. zhaoxd530@aliyun.com.
Papers in Europe PMC - 03An Y4 papers · 2025
National Clinical Research Center for Child Health and Disorders (Chongqing), Children's Hospital of Chongqing Medical University, Chongqing, China.
Papers in Europe PMC - 04Sun G4 papers · 2025
National Clinical Research Center for Child Health and Disorders (Chongqing), Children's Hospital of Chongqing Medical University, Chongqing, China.
Papers in Europe PMC - 05Tang X4 papers · 2025
National Clinical Research Center for Child Health and Disorders (Chongqing), Children's Hospital of Chongqing Medical University, Chongqing, China.
Papers in Europe PMC - 06Zhou L4 papers · 2025
National Clinical Research Center for Child Health and Disorders (Chongqing), Children's Hospital of Chongqing Medical University, Chongqing, China.
Papers in Europe PMC - 07Ding Y3 papers · 2023
National Clinical Research Center for Child Health and Disorders (Chongqing), Children's Hospital of Chongqing Medical University, Chongqing, China.
Papers in Europe PMC - 08Sun L3 papers · 2025
Department of Rheumatology, Children's Hospital of Fudan University, National Pediatric Medical Center of China, Shanghai, China. lillysun@263.net.
Papers in Europe PMC - 09Wu J3 papers · 2023
National Clinical Research Center for Child Health and Disorders (Chongqing), Children's Hospital of Chongqing Medical University, Chongqing, China.
Papers in Europe PMC - 10Zhang Z3 papers · 2025
National Clinical Research Center for Child Health and Disorders (Chongqing), Children's Hospital of Chongqing Medical University, Chongqing, China.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
—
interventional trials for this specific condition
We could not load trial data for this condition right now.
Data as of 27 July 2026
medium confidence
Recruiting interventional trials
From the matched ClinicalTrials.gov set
Trial data could not be loaded for this build. This is not the same as finding zero interventional 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.
"X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency" OR "Deficiency in ELF4, X-linked" OR "X-AIDE" OR "X-linked autoinflammatory and immunodeficiency disease associated with ELF4" OR "X-linked immune dysregulation with inflammatory bowel disease due to E74 like ETS transcription factor 4 deficiency" OR "AIFBL2" OR "autoinflammatory syndrome, familial, X-linked, Behcet-like 2" OR "deficiency 1n ELF4, X-linked"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
(empty)
Recall-expansion terms: ELF4
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Synonyms dropped by stoplist: DEX
Source errors: trials: Error: HTTP 400 for https://clinicaltrials.gov/api/v2/studies?query.cond=%22X-linked%20immune%20dysregulation%20with%20inflammatory%20bowel%20disease%20due%20to%20ELF4%20deficiency%22%20OR%20%22Deficiency%20in%20ELF4%2C%20X-linked%22%20OR%20%22X-AIDE%22%20OR%20%22X-linked%20autoinflammatory%20and%20immunodeficiency%20disease%20associated%20with%20ELF4%22%20OR%20%22X-linked%20immune%20dysregulation%20with%20inflammatory%20bowel%20disease%20due%20to%20E74%20like%20ETS%20transcription%20factor%204%20deficiency%22%20OR%20%22AIFBL2%22%20OR%20%22autoinflammatory%20syndrome%2C%20familial%2C%20X-linked%2C%20Behcet-like%202%22%20OR%20%22deficiency%201n%20ELF4%2C%20X-linked%22%20OR%20%22ELF4%22&format=json&pageSize=100&countTotal=true
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T20:26:35.246Z