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ORPHA:3261

Autoimmune lymphoproliferative syndrome

low confidenceDisorder

Also known as: ALPS · Canale-Smith syndrome

Publications

11,865

Trials

6

Interventional, condition-specific

Researchers

1,553

Distinct authors in sample

Gene link

FAS, FASLG

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

ALPS (autoimmune lymphoproliferative syndrome) · FAS 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.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — FAS, FASLG

  2. LiteraturePresent

    11,865 matched papers (5,525 in last 10 years) Source

  3. Phenotype characterisedPresent

    299 HPO annotations (e.g. Decreased circulating immunoglobulin concentration; Atopic dermatitis; Splenomegaly) Source

  4. Animal modelPresent

    7 genotype models (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 trialPresent

    6 matched on ClinicalTrials.gov (1 recruiting in sample)

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 (FAS, FASLG).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

299

Associated phenotypes · MONDO:0017979

  • Decreased circulating immunoglobulin concentration
  • Atopic dermatitis
  • Splenomegaly
  • Autoimmune hemolytic anemia
  • Autoimmune thrombocytopenia

Showing 5 of 299 — open Monarch for the full list.

Animal models (Monarch / Alliance)

7

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

5

Drugs / clinical candidates · MONDO_0017979

CTD chemicals (MyDisease.info)

3 associated chemicals · 238 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Mycophenolic Acid · therapeutic
  • Pyrimethamine · therapeutic
  • tofacitinib · therapeutic

Pathways: EGFR tyrosine kinase inhibitor resistance; Endocrine resistance; Platinum drug resistance; MAPK signaling pathway; ErbB signaling pathway; Ras signaling pathway; Rap1 signaling pathway; Cytokine-cytokine receptor interaction

MyDisease.info · MONDO:0017979

Literature

Is anyone studying this?

11,865

11,865 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.

11,865 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).

5,525 in the last 10 years · low confidence

Phrase hits: 3,661 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,553

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.

  1. 01
    Rieux-Laucat F7 papers · 2026

    Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Institut Imagine, Université Paris Cité, INSERM, UMR S1163, Paris, France.

    Papers in Europe PMC
  2. 02
    Consolini R6 papers · 2026

    Section of Clinical and Laboratory Immunology, Division of Pediatrics, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.

    Papers in Europe PMC
  3. 03
    Costagliola G6 papers · 2026

    Section of Clinical and Laboratory Immunology, Division of Pediatrics, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.

    Papers in Europe PMC
  4. 04
    Ehl S6 papers · 2026

    Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany. Electronic address: stephan.ehl@uniklinik-freiburg.de.

    Papers in Europe PMC
  5. 05
    Rao VK6 papers · 2026

    Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases.

    Papers in Europe PMC
  6. 06
    Wang X6 papers · 2026

    Brigham and Women's Hospital, Boston, Massachusetts.

    Papers in Europe PMC
  7. 07
    Al-Herz W5 papers · 2026

    Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.

    Papers in Europe PMC
  8. 08
    Bousfiha AA5 papers · 2026

    2. Laboratoire d’immunologie clinique, inflammation et allergie, faculté de médecine et de pharmacie de Casablanca. / Hassan II University of Casablanca

    Papers in Europe PMC
  9. 09
    Picard C5 papers · 2026

    Study Center for Primary Immunodeficiencies, Université Paris Cité, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.

    Papers in Europe PMC
  10. 10
    Sullivan KE5 papers · 2025

    Division of Allergy Immunology, Department of Pediatrics, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

6

interventional trials for this specific condition

6 interventional trials matched this specific condition name; 1 currently recruiting in our sample. 3 trials are registered for 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 28 July 2026

6 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 90.1th percentile).

low confidence · 90.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

6 interventional trials matched after quoted-phrase search and title/condition post-filter.

Broader category: lymphoproliferative syndrome

3

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.

Observational and natural-history studies

4 observational studies match 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

Open the complete matched search on ClinicalTrials.gov

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 6 · after dedupe 6 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 6 · dropped 0 · fetched 2026-07-29

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).

Uncertain / not reviewed (6)

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 — 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" OR "Canale-Smith syndrome" OR "ALPS (autoimmune lymphoproliferative syndrome)" OR "FAS deficiency") OR ("FAS syndrome" OR "FAS-related" OR "FASLG" OR "FASLG syndrome" OR "FASLG-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" OR "Canale-Smith syndrome" OR "ALPS (autoimmune lymphoproliferative syndrome)" OR "FAS deficiency"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 6 interventional · 4 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"lymphoproliferative syndrome"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: ALPS

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 (11865) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T22:41:41.958Z