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immunodeficiency 120 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

immunodeficiency 120

MONDO:0970994

Overview

GeneticsAutosomal dominant · POLD1 (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: Decreased naive CD4+ T cell proportion, Microcephaly, Hearing loss (hearing impairment), and Delayed speech and language development and others; and common findings: Decreased circulating total IgM, Borderline intellectual disability, Complete or near-complete absence of specific antibody response to tetanus vaccine, and Inner ear hearing loss (sensorineural hearing impairment) and others. 21 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing

Genetic Landscape

POLD1 function has not been fully characterized.

Immunodeficiency 120 is associated with mutations in the POLD1 gene on chromosome 19.

Diagnosis

Genetic testing for POLD1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for immunodeficiency 120 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 11 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 immunodeficiency 120.

200 publications have been identified in PubMed for immunodeficiency 120. Research spans Epidemiology / Natural History (38%), Clinical Trial Publication (27%), and Review / Meta-Analysis (12%).

Research Type	Count	% of Total
Disease patterns and progression	62	38%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620836

Questions for Your Care Team

→Should I pursue genetic testing for POLD1, and what would the results mean for my family?
→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 120

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

immunodeficiency 120

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications