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immunodeficiency 75 (IMD75) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

immunodeficiency 75

MONDO:0030858

Also known as:IMD75

Overview

GeneticsAutosomal recessive · TET2 (chr 4)

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 class-switched memory B cell proportion, Moderate global developmental delay, Bronchiectasis, and Lymphadenopathy and others; and common findings: Persistent EBV viremia and Decreased FasL-mediated apoptosis. 10 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Decreased class-switched memory B cell proportion, Moderate global developmental delay

Genetic Landscape

TET2 function has not been fully characterized.

Immunodeficiency 75 is associated with mutations in the TET2 gene on chromosome 4.

Diagnosis

Genetic testing for TET2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for immunodeficiency 75 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 7 always present features, 2 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 75.

203 publications have been identified in PubMed for immunodeficiency 75. Kisho has analyzed 98 by research type. Research spans Epidemiology / Natural History (42%), Review / Meta-Analysis (22%), and Clinical Trial Publication (13%).

Research Type	Count	% of Total
Disease patterns and progression	41	42%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 7:30 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619126

Orphanet

European rare disease database

Orphanet:664729

GARD

Genetic and Rare Diseases Info Center

GARD:18194

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 75

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

immunodeficiency 75

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications