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ORPHA:3261

Autoimmune lymphoproliferative syndrome

low confidenceDisorder

Also known as: ALPS · Canale-Smith syndrome

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

3,661

Trials

6

Interventional, condition-specific

Researchers

1,553

Distinct authors in sample

Gene link

FAS, FASLG

Definitive

Readiness

3/6

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.”

3/6 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

    3,661 matched papers (2,288 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  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)

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?

3,661

3,661 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.

3,661 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).

2,288 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 27 July 2026

6 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 89th percentile).

low confidence · 89th 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

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 2026-07-26

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"

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" OR "FAS" OR "FASLG"

Recall-expansion terms: FAS, FASLG

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: suspect — strategies attempted: phrase, recall-expansion; 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 (3661) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

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