ORPHA:652522
Periodic fever-immunodeficiency-thrombocytopenia syndrome
Also known as: PFITS
Publications
95
46.2th percentile
Trials
0
Interventional, condition-specific
Researchers
416
Distinct authors in sample
Gene link
WDR1
Strong
Readiness
2/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007883
- MeSH:C562721
- OMIM:150550
- UMLS:C0272174
Additional Mondo synonyms (1)
lazy leukocyte 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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — WDR1
- LiteraturePresent
95 matched papers (34 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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 (WDR1).
GenCC classification: Strong.
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?
95
95 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.
95 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).
34 in the last 10 years · high confidence · 46.2th percentile (publications denominator)
Phrase hits: 95 · MeSH hits: 2
Who's working on it?
416
Distinct author names in 95 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.
- 01Komiyama A4 papers · 2000Papers in Europe PMC
- 02Akabane T3 papers · 1985Papers in Europe PMC
- 03Genco RJ3 papers · 1996
Department of Oral Biology, State University of New York at Buffalo, Buffalo, New York 14226
Papers in Europe PMC - 04Kuijpers TW3 papers · 2021
Department of Blood Cell Research, Sanquin Research, Amsterdam University Medical Center (AUMC), University of Amsterdam, Amsterdam, Netherlands.
Papers in Europe PMC - 05Van Dyke TE3 papers · 2005
Department of Periodontology and Oral Biology, Goldman School of Dental Medicine, Boston University, MA 02118, USA. tvandyke@bu.edu
Papers in Europe PMC - 06Clark RA2 papers · 1977Papers in Europe PMC
- 07Cutler CW2 papers · 2017
Department of Oral Biology, Emory University, Atlanta, Georgia 30322.
Papers in Europe PMC - 08Foroozanfar N2 papers · 1984Papers in Europe PMC
- 09Hobbs JR2 papers · 1984Papers in Europe PMC
- 10Kuhns DB2 papers · 2016
Neutrophil Monitoring Laboratory, Applied/Developmental Research Directorate, Leidos Biomedical Research, Inc, Frederick National Laboratory for Cancer Research, Frederick, MD.
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).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 2026-07-26This 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.
"Periodic fever-immunodeficiency-thrombocytopenia syndrome" OR "PFITS" OR "lazy leukocyte syndrome"
MeSH descriptor terms unioned into the query: Lazy Leukocyte Syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Periodic fever-immunodeficiency-thrombocytopenia syndrome" OR "PFITS" OR "lazy leukocyte syndrome" OR "WDR1"
Recall-expansion terms: WDR1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T19:56:45.595Z