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immunodeficiency 53 (IMD53) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

immunodeficiency 53

MONDO:0054696

Also known as:IMD53

Overview

GeneticsAutosomal recessive · RELB (chr 19)

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: Chronic cough, Recurrent pneumonia, Impaired lymphocyte transformation with phytohemagglutinin, and Increased total neutrophil count; and common findings: Recurrent urinary tract infections, Failure to thrive, Asthma, and Recurrent otitis media and others.

Organ System	Phenotype Count	Example Features
Blood and immune system	3	Recurrent urinary tract infections, Recurrent upper respiratory tract infections, Increased total neutrophil count

Genetic Landscape

RELB function has not been fully characterized.

Immunodeficiency 53 has limited evidence linking it to mutations in the RELB gene on chromosome 19.

Diagnosis

Genetic testing for RELB is available. Testing is considered research-grade for diagnosis.

Biomarker and diagnostic research for immunodeficiency 53 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 always present features, 6 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 immunodeficiency 53.

203 publications have been identified in PubMed for immunodeficiency 53. Kisho has analyzed 82 by research type. Research spans Epidemiology / Natural History (49%), Review / Meta-Analysis (20%), and Clinical Trial Publication (12%).

Research Type	Count	% of Total
Disease patterns and progression	40	49%

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 3:29 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617585

Orphanet

European rare disease database

Orphanet:688594

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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Kisho

immunodeficiency 53

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

immunodeficiency 53

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications