RARE DISEASERESEARCH ATLAS

ORPHA:268114

RAS-associated autoimmune leukoproliferative disease

medium confidence

Also known as: RALD

Clinical definition (Orphanet)

RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, , and hypergammaglobulinemia.

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

Is anyone studying this?

145

145 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=183) is 38.

145 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).

128 in the last 10 years · medium confidence · 71th percentile (publications denominator)

Is a treatment being tested?

449

trials for this specific condition

449 interventional trials matched this specific condition name; 174 currently recruiting in our sample.

Data as of 26 July 2026

449 interventional trials — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 99.4th percentile).

medium confidence · 99.4th percentile (trials denominator)

Do we know what causes it?

Yes — we know a specific gene responsible (KRAS).

GenCC classification: Strong.

Who's working on it?

2,309

Distinct author names in 145 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
    Martini A20 papers · 2017

    Genova, Italy

    Papers in Europe PMC
  2. 02
    Ravelli A13 papers · 2021

    Genova, Italy

    Papers in Europe PMC
  3. 03
    Ruperto N13 papers · 2017

    Genova, Italy

    Papers in Europe PMC
  4. 04
    Consolaro A9 papers · 2017

    Genova, Italy

    Papers in Europe PMC
  5. 05
    De Benedetti F8 papers · 2017

    Rome, Italy

    Papers in Europe PMC
  6. 06
    Rao VK8 papers · 2026

    ALPS Unit, Laboratory of Clinical and Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health (NIH), Bethesda, MD 20892, USA. korao@niaid.nih.gov

    Papers in Europe PMC
  7. 07
    Al-Herz W7 papers · 2026

    Department of Pediatrics, Kuwait University , Kuwait City , Kuwait ; Allergy and Clinical Immunology Unit, Department of Pediatrics, Al-Sabah Hospital , Kuwait City , Kuwait.

    Papers in Europe PMC
  8. 08
    Gattorno M7 papers · 2021

    Genova, Italy

    Papers in Europe PMC
  9. 09
    Horneff G7 papers · 2017

    Sankt Augustin, Germany

    Papers in Europe PMC
  10. 10
    Oliveira JB7 papers · 2015

    Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA. oliveirajb@cc.nih.gov

    Papers in Europe PMC

Recruiting interventional trials

Trials testing a treatment from the matched ClinicalTrials.gov set

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

Observational and natural-history studies

72 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 below but are not added to the query string.

"RAS-associated autoimmune leukoproliferative disease" OR "ALPS4" OR "NRAS autoimmune lymphoproliferative syndrome" OR "RAS-associated autoimmune leukoproliferative disorder" OR "RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic" OR "autoimmune lymphoproliferative syndrome caused by mutation in NRAS"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"RAS-associated autoimmune leukoproliferative disease" OR "ALPS4" OR "NRAS autoimmune lymphoproliferative syndrome" OR "RAS-associated autoimmune leukoproliferative disorder" OR "RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic" OR "autoimmune lymphoproliferative syndrome caused by mutation in NRAS" OR "KRAS" OR "autoimmune lymphoproliferative syndrome" OR "autoimmune disease"

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: 449 interventional · 72 observational · 6 expanded access. Only interventional studies enter the trial headline.

Cross-references (from Mondo): OMIM:614470 UMLS:C2674723

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: RALD

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

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