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periodic fever, immunodeficiency, and thrombocytopenia syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

periodic fever, immunodeficiency, and thrombocytopenia syndrome

MONDO:0007883

Also known as:lazy leukocyte syndrome

Overview

GeneticsAutosomal recessive · WDR1 (chr 4)

ResearchLimited published research (2 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Decreased total B cell count and Recurrent infections; and common findings: Diarrhea, Pyoderma gangrenosum, Bronchiectasis, and Recurrent aphthous stomatitis and others. 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	4	Recurrent infections, Enlarged spleen (splenomegaly), Decreased total neutrophil count

Genetic Landscape

WDR1 function has not been fully characterized.

Periodic fever, immunodeficiency, and thrombocytopenia syndrome is associated with mutations in the WDR1 gene on chromosome 4.

Diagnosis

Genetic testing for WDR1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 9 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for periodic fever, immunodeficiency, and thrombocytopenia syndrome.

2 publications have been identified in PubMed for periodic fever, immunodeficiency, and thrombocytopenia syndrome. Research spans Review / Meta-Analysis (100%).

Recent Publications

AlSaleem A (2025). [PMID: 40739506](https://pubmed.ncbi.nlm.nih.gov/40739506/). *Pediatric rheumatology online journal*. [Review / Meta-Analysis]
Belot A (2025). [PMID: 39964335](https://pubmed.ncbi.nlm.nih.gov/39964335/). *ACR open rheumatology*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 21, 2026, 12:37 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:150550

Orphanet

European rare disease database

Orphanet:652522

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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periodic fever, immunodeficiency, and thrombocytopenia syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

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Questions for Your Care Team

Questions for Your Care Team

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