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proteasome-associated autoinflammatory syndrome 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

proteasome-associated autoinflammatory syndrome 3

MONDO:0054699

Also known as:proteasome-associated autoinflammatory syndrome 3 and digenic formsPRAAS3proteasome-associated autoinflammatory syndrome 3, digenic

Overview

GeneticsAutosomal recessive · PSMB4 (chr 1)

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: Flexion contracture, Enlarged liver (hepatomegaly), Elevated antibody levels (increased circulating immunoglobulin concentration), and Failure to thrive and 21 more.

Organ System	Phenotype Count	Example Features
Blood and immune system	4	Recurrent infections, Low red blood cell count (anemia), Enlarged spleen (splenomegaly)

Genetic Landscape

PSMB4 function has not been fully characterized.

Proteasome-associated autoinflammatory syndrome 3 is associated with mutations in the PSMB4 gene on chromosome 1.

Diagnosis

Genetic testing for PSMB4 is available. Testing is considered confirmatory for diagnosis.

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 proteasome-associated autoinflammatory syndrome 3.

2 publications have been identified in PubMed for proteasome-associated autoinflammatory syndrome 3. Research spans Review / Meta-Analysis (50%) and Gene Therapy / Novel Therapeutics (50%).

Recent Publications

Singh S (2026). [PMID: 41466885](https://pubmed.ncbi.nlm.nih.gov/41466885/). *Journal of translational autoimmunity*. [Review / Meta-Analysis]
Kanegane H (2025). [PMID: 40498270](https://pubmed.ncbi.nlm.nih.gov/40498270/). *International journal of hematology*. [Gene Therapy / Novel Therapeutics]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:13 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617591

GARD

Genetic and Rare Diseases Info Center

GARD:18446

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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proteasome-associated autoinflammatory syndrome 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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