ORPHA:275517
Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency
Also known as: ALPS-recurrent viral infections due to CASP8 deficiency · Autoimmune lymphoproliferative syndrome-recurrent viral infections due to Caspase 8 deficiency · CEDS · Caspase 8 deficiency syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
599
Trials
0
Interventional, condition-specific
Researchers
1,259
Distinct authors in sample
Gene link
CASP8
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic disorder characterized by lymphadenopathy and/or and recurrent infections due to herpes viruses.
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:0011804
- OMIM:607271
- UMLS:C1846545
Additional Mondo synonyms (6)
ALPS2B · CASP8 autoimmune lymphoproliferative syndrome · autoimmune lymphoproliferative syndrome caused by mutation in CASP8 · autoimmune lymphoproliferative syndrome, type IIB · caspase 8 deficiency · caspase 8 deficiency syndrome
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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — CASP8
- LiteraturePresent
599 matched papers (411 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; 6 for broader category autoimmune lymphoproliferative syndrome
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 (CASP8).
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?
599
599 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
599 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).
411 in the last 10 years · low confidence
Phrase hits: 599 · MeSH hits: 0
Who's working on it?
1,259
Distinct author names in 200 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.
- 01Wang Y8 papers · 2025
Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), Cologne, Germany.
Papers in Europe PMC - 02Li J5 papers · 2026
Department of Veterinary Integrative Biosciences, Texas A&M University, College Station, TX 77843.
Papers in Europe PMC - 03Malfait F5 papers · 2023
Centre for Medical Genetics, University Hospital, Ghent, Belgium; and.
Papers in Europe PMC - 04Soslowsky LJ5 papers · 2026
McKay Orthopedic Research Laboratory, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address: soslowsk@mail.med.upenn.edu.
Papers in Europe PMC - 05Sun Y5 papers · 2026
Department of Ophthalmology, The First Hospital of China Medical University, Shenyang, Liaoning China
Papers in Europe PMC - 06Weiss SN5 papers · 2026
McKay Orthopedic Research Laboratory, University of Pennsylvania, Philadelphia, PA 19104, USA.
Papers in Europe PMC - 07Xu X5 papers · 2026
Department of Plastic and Reconstructive Surgery, Shanghai Ninth People's Hospital, Shanghai JiaoTong University School of Medicine, Shanghai, China.
Papers in Europe PMC - 08Zhang J5 papers · 2025
Department of Gastroenterology, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China.
Papers in Europe PMC - 09Zhang Y5 papers · 2026
Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Key Laboratory of Ophthalmology and Visual Sciences, Beijing, China
Papers in Europe PMC - 10Colombi M4 papers · 2025
Department of Molecular and Translational Medicine, School of Medicine, Division of Biology and Genetics, University of Brescia, Brescia, Italy.
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). 6 trials are registered for autoimmune lymphoproliferative syndrome, 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.
low 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.
6 interventional trials matched autoimmune lymphoproliferative syndrome, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: autoimmune lymphoproliferative syndrome
6
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.
Recruiting under the broader category
- NCT06730126·RECRUITING·Study of the ITK Inhibitor Soquelitinib to Reduce Lymphoproliferation and Improve Cytopenias in Autoimmune Lymphoproliferative Syndrome (ALPS)-FAS Patients
Conditions: Autoimmune Lymphoproliferative Syndrome·Matched via name phrase
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.
"Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency" OR "ALPS-recurrent viral infections due to CASP8 deficiency" OR "Autoimmune lymphoproliferative syndrome-recurrent viral infections due to Caspase 8 deficiency" OR "Caspase 8 deficiency syndrome" OR "ALPS2B" OR "CASP8 autoimmune lymphoproliferative syndrome" OR "autoimmune lymphoproliferative syndrome caused by mutation in CASP8" OR "autoimmune lymphoproliferative syndrome, type IIB" OR "caspase 8 deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency" OR "ALPS-recurrent viral infections due to CASP8 deficiency" OR "Autoimmune lymphoproliferative syndrome-recurrent viral infections due to Caspase 8 deficiency" OR "Caspase 8 deficiency syndrome" OR "ALPS2B" OR "CASP8 autoimmune lymphoproliferative syndrome" OR "autoimmune lymphoproliferative syndrome caused by mutation in CASP8" OR "autoimmune lymphoproliferative syndrome, type IIB" OR "caspase 8 deficiency" OR "CASP8"
Recall-expansion terms: CASP8
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"autoimmune lymphoproliferative syndrome"
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: CEDS
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
- Publication count (599) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T11:36:15.404Z