RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:275517

Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency

low confidenceDisorder

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

Publications

58,191

Trials

0

Interventional, condition-specific

Researchers

1,259

Distinct authors in sample

Gene link

CASP8

Definitive

Readiness

5/6

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.

Orphanet entry

Cross-references

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

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.”

5/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — CASP8

  2. LiteraturePresent

    58,191 matched papers (31,921 in last 10 years) Source

  3. Phenotype characterisedPresent

    18 HPO annotations (e.g. Decreased circulating IgM concentration; Defective B cell activation; Inverted CD4:CD8 ratio) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

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

  6. 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)

18

Associated phenotypes · MONDO:0011804

  • Decreased circulating IgM concentration
  • Defective B cell activation
  • Inverted CD4:CD8 ratio
  • Decreased T cell activation
  • Splenomegaly

Showing 5 of 18 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

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?

58,191

58,191 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

58,191 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).

31,921 in the last 10 years · low confidence

Phrase hits: 599 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Wang Y8 papers · 2025

    Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), Cologne, Germany.

    Papers in Europe PMC
  2. 02
    Li J5 papers · 2026

    Department of Veterinary Integrative Biosciences, Texas A&M University, College Station, TX 77843.

    Papers in Europe PMC
  3. 03
    Malfait F5 papers · 2023

    Centre for Medical Genetics, University Hospital, Ghent, Belgium; and.

    Papers in Europe PMC
  4. 04
    Soslowsky 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
  5. 05
    Sun Y5 papers · 2026

    Department of Ophthalmology, The First Hospital of China Medical University, Shenyang, Liaoning China

    Papers in Europe PMC
  6. 06
    Weiss SN5 papers · 2026

    McKay Orthopedic Research Laboratory, University of Pennsylvania, Philadelphia, PA 19104, USA.

    Papers in Europe PMC
  7. 07
    Xu 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
  8. 08
    Zhang J5 papers · 2025

    Department of Gastroenterology, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China.

    Papers in Europe PMC
  9. 09
    Zhang 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
  10. 10
    Colombi 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 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.

low 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.

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

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency — 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.

("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" OR "CASP8 syndrome" OR "CASP8-related")

Run this search on Europe PMC

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"

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: ok — strategies attempted: phrase; 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 (58191) 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