ORPHA:436166
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Also known as: NLRC4-related autoinflammatory syndrome with macrophage activation syndrome · NLRC4-related infantile enterocolitis-autoinflammatory syndrome · NLRC4-related macrophage activation syndrome · NLRC4-related MAS · NLRC4-related autoinflammatory syndrome with MAS
Publications
356
83.3th percentile
Trials
3
Interventional, condition-specific
Researchers
1,336
Distinct authors in sample
Gene link
NLRC4
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic systemic or rheumatologic disease characterized by or onset of enterocolitis (which resolves with age), periodic fever, and episodes of severe systemic inflammation, which may be precipitated by infections, stress, or fatigue. Signs and symptoms include , urticaria-like rashes, arthralgia, and myalgia. Associated laboratory findings are elevated inflammatory markers (such as ferritin, C-reactive protein), pancytopenia, and elevated transaminases. If left untreated, flares can progress to coagulopathy, organ failure, and death.
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:0014472
- OMIM:616050
- UMLS:C4015067
Additional Mondo synonyms (2)
Autoinflammation with Infantile Enterocolitis · autoinflammation with infantile enterocolitis
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — NLRC4
- LiteraturePresent
356 matched papers (272 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 trialPresent
3 matched on ClinicalTrials.gov
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 (NLRC4).
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?
356
356 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.
356 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).
272 in the last 10 years · medium confidence · 83.3th percentile (publications denominator)
Phrase hits: 356 · MeSH hits: 0
Who's working on it?
1,336
Distinct author names in 200 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.
- 01Wang Y9 papers · 2026
Department of Metabolism and Endocrinology, The Second Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China.
Papers in Europe PMC - 02Canna SW5 papers · 2025
Pediatric Rheumatology/RK Mellon Institute, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pa.
Papers in Europe PMC - 03Li Y5 papers · 2023
Department of Stomatology, Xi'an International Medical Center Hospital Affiliated to Northwest University, Xi'an, Shaanxi, China.
Papers in Europe PMC - 04Kang Z4 papers · 2026
Department of Pathology, University of Iowa, Iowa City, IA 52242, USA.
Papers in Europe PMC - 05Li J4 papers · 2026
Department of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
Papers in Europe PMC - 06Li X4 papers · 2026
Department of Metabolism and Endocrinology, The Second Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China.
Papers in Europe PMC - 07Belot A3 papers · 2023
Pediatric Nephrology, Rheumatology, Dermatology, HFME, Hospices Civils de Lyon, National Referee Centre RAISE, & INSERM U1111, Université de Lyon, Lyon, France.
Papers in Europe PMC - 08Eleftheriou D3 papers · 2023
Inflammation and Rheumatology Section, University College London Great Ormond Street Institute of Child Health, London, United Kingdom.
Papers in Europe PMC - 09Gabay C3 papers · 2025
Division of Rheumatology, Department of Medicine, Faculty of Medicine, University of Geneva, Geneva, Switzerland.
Papers in Europe PMC - 10Gao JZ3 papers · 2025
Department of Pathology, University of Iowa, Iowa City, IA 52242, USA.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
3
interventional trials for this specific condition
3 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
3 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 85.1th percentile).
medium confidence · 85.1th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
3 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Observational and natural-history studies
1 observational study matches 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.
Recruiting or not-yet-recruiting
- NCT02974595·RECRUITING·Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases (NOMID/CAPS, DIRA, CANDLE, SAVI, NLRC4-MAS, Still'S-like Diseases, and Other Undifferentiated Autoinflammatory Diseases)
Conditions: NOMID · DIRA · NLRC4-MAS · SAVI·Matched via recall expansion
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.
"Periodic fever-infantile enterocolitis-autoinflammatory syndrome" OR "NLRC4-related autoinflammatory syndrome with macrophage activation syndrome" OR "NLRC4-related infantile enterocolitis-autoinflammatory syndrome" OR "NLRC4-related macrophage activation syndrome" OR "NLRC4-related MAS" OR "NLRC4-related autoinflammatory syndrome with MAS" OR "Autoinflammation with Infantile Enterocolitis"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Periodic fever-infantile enterocolitis-autoinflammatory syndrome" OR "NLRC4-related autoinflammatory syndrome with macrophage activation syndrome" OR "NLRC4-related infantile enterocolitis-autoinflammatory syndrome" OR "NLRC4-related macrophage activation syndrome" OR "NLRC4-related MAS" OR "NLRC4-related autoinflammatory syndrome with MAS" OR "Autoinflammation with Infantile Enterocolitis" OR "NLRC4"
Recall-expansion terms: NLRC4
Interventional trials matched via: phrase, recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 3 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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
- Publication count (356) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T16:09:21.364Z