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ORPHA:512017

Chronic lymphoproliferative disorder of natural killer cells

medium confidenceDisorder

Also known as: CLPD-NK · CNKL · Chronic NK lymphocytosis · Chronic NK-cell lymphocytosis · Chronic lymphoproliferative disorder of NK-cells · NK-cell lineage granular lymphocyte proliferative disorder

Publications

430

82.7th percentile

Trials

4

Interventional, condition-specific

Researchers

1,337

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare large granular lymphocyte leukemia characterized by persistent (> 6 months) natural killer cell lymphocytosis in the absence of clinical diagnosis of leukemia/lymphoma, autoimmune disease, or chronic viral infections. The clinical course is variable, but generally indolent. Patients often remain asymptomatic, or may present with clinical manifestations including vasculitic skin lesions, neutropenic infections, musculoskeletal symptoms, peripheral , or .

Orphanet entry

Cross-references

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

Additional Mondo synonyms (14)

NK-LGL leukaemia · NK-LGL leukemia · NK-LGLL · NK-cell large granular lymphocyte lymphocytosis · NK-type lymphoproliferative disorder of granular lymphocytes · chronic NK lymphocytosis · chronic NK-LGL lymphoproliferative disorder · chronic NK-cell lymphocytosis · chronic NK-large granular lymphocyte lymphoproliferative disorder · chronic lymphoproliferative disorder of NK-cells · indolent NK-cell lymphoproliferative disorder · indolent large granular NK-cell lymphoproliferative disorder · natural killer-cell large granular lymphocyte leukaemia · natural killer-cell large granular lymphocyte leukemia

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.”

2/6 stages with a signal

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

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    430 matched papers (262 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

    4 matched on ClinicalTrials.gov (3 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

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?

430

430 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=5449) is 41.

430 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).

262 in the last 10 years · medium confidence · 82.7th percentile (publications denominator)

Phrase hits: 430 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,337

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
    Loughran TP Jr25 papers · 2026

    Division of Hematology and Oncology, Department of Medicine, University of Virginia Cancer Center, University of Virginia, Charlottesville, VA; and.

    Papers in Europe PMC
  2. 02
    Feith DJ15 papers · 2026

    Division of Hematology and Oncology, Department of Medicine, University of Virginia Cancer Center, University of Virginia, Charlottesville, VA; and.

    Papers in Europe PMC
  3. 03
    Semenzato G13 papers · 2025

    Department of Clinical and Experimental Medicine, Hematology and Clinical Immunology Branch, Padua University School of Medicine, Padova, Italy. g.semenzato@unipd.it

    Papers in Europe PMC
  4. 04
    Zambello R13 papers · 2026

    Hematology and Clinical Immunology Section, Department of Medicine (DIMED), Padova University School of Medicine, Padova, Italy.

    Papers in Europe PMC
  5. 05
    Teramo A11 papers · 2026

    Hematology and Clinical Immunology Section, Department of Medicine (DIMED), Padova University School of Medicine, Padova, Italy.

    Papers in Europe PMC
  6. 06
    Barilà G10 papers · 2025

    Hematology and Clinical Immunology Section, Department of Medicine (DIMED), Padova University School of Medicine, Padova, Italy.

    Papers in Europe PMC
  7. 07
    Calabretto G9 papers · 2025

    Hematology and Clinical Immunology Section, Department of Medicine (DIMED), Padova University School of Medicine, Padova, Italy.

    Papers in Europe PMC
  8. 08
    Gasparini VR8 papers · 2026

    Hematology and Clinical Immunology Section, Department of Medicine (DIMED), Padova University School of Medicine, Padova, Italy.

    Papers in Europe PMC
  9. 09
    Lamy T8 papers · 2026

    Department of Hematology, Pontchaillou University Hospital, Rennes, France. tloughran@psu.edu

    Papers in Europe PMC
  10. 10
    Olson TL8 papers · 2022

    Division of Hematology and Oncology, Department of Medicine, University of Virginia Cancer Center, University of Virginia, Charlottesville, VA; and.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

4

interventional trials for this specific condition

4 interventional trials matched this specific condition name; 3 currently recruiting in our sample.

Data as of 27 July 2026

4 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 86.7th percentile).

medium confidence · 86.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

3 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.

"Chronic lymphoproliferative disorder of natural killer cells" OR "Chronic lymphoproliferative disorder of the natural killer cells" OR "CLPD-NK" OR "Chronic NK lymphocytosis" OR "Chronic NK-cell lymphocytosis" OR "Chronic lymphoproliferative disorder of NK-cells" OR "Chronic lymphoproliferative disorder of the NK-cells" OR "NK-cell lineage granular lymphocyte proliferative disorder" OR "NK-LGL leukaemia" OR "NK-LGL leukemia" OR "NK-LGLL" OR "NK-cell large granular lymphocyte lymphocytosis" OR "NK-type lymphoproliferative disorder of granular lymphocytes" OR "NK-type lymphoproliferative disorder of the granular lymphocytes" OR "chronic NK-LGL lymphoproliferative disorder" OR "chronic NK-large granular lymphocyte lymphoproliferative disorder" OR "indolent NK-cell lymphoproliferative disorder" OR "indolent large granular NK-cell lymphoproliferative disorder" OR "natural killer-cell large granular lymphocyte leukaemia" OR "natural killer-cell large granular lymphocyte leukemia"

Run this search on Europe PMC

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

"Chronic lymphoproliferative disorder of natural killer cells" OR "Chronic lymphoproliferative disorder of the natural killer cells" OR "CLPD-NK" OR "Chronic NK lymphocytosis" OR "Chronic NK-cell lymphocytosis" OR "Chronic lymphoproliferative disorder of NK-cells" OR "Chronic lymphoproliferative disorder of the NK-cells" OR "NK-cell lineage granular lymphocyte proliferative disorder" OR "NK-LGL leukaemia" OR "NK-LGL leukemia" OR "NK-LGLL" OR "NK-cell large granular lymphocyte lymphocytosis" OR "NK-type lymphoproliferative disorder of granular lymphocytes" OR "NK-type lymphoproliferative disorder of the granular lymphocytes" OR "chronic NK-LGL lymphoproliferative disorder" OR "chronic NK-large granular lymphocyte lymphoproliferative disorder" OR "indolent NK-cell lymphoproliferative disorder" OR "indolent large granular NK-cell lymphoproliferative disorder" OR "natural killer-cell large granular lymphocyte leukaemia" OR "natural killer-cell large granular lymphocyte leukemia"

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: 4 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: CNKL

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

Ingested 2026-07-27T17:57:41.321Z