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immunodeficiency 28 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

immunodeficiency 28

MONDO:0013953

Also known as:IFNGR2 primary immunodeficiency diseaseimmunodeficiency type 28primary immunodeficiency disease caused by mutation in IFNGR2

Overview

Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IFNGR2 gene.

GeneticsAutosomal recessive · IFNGR2 (chr 21)

Clinical Presentation

Features include: Recurrent mycobacterial infections and Immunodeficiency.

Organ System	Phenotype Count	Example Features
Blood and immune system	2	Recurrent mycobacterial infections, Immunodeficiency

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

IFNGR2 encodes interferon gamma receptor 2 (337 aa). Associates with IFNGR1 to form a receptor for the cytokine interferon gamma (IFNG). Ligand binding stimulates activation of the JAK/STAT signaling pathway. Highest expression in Whole Blood (117.1 TPM) and Nerve Tibial (93.7 TPM).

Immunodeficiency 28 is associated with mutations in the IFNGR2 gene on chromosome 21.

IFNGR2 is classified as a druggable target (Clinically Actionable and Druggable Genome categories) with score 104.4.

Diagnosis

Genetic testing for IFNGR2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for immunodeficiency 28 has been reported in the published literature.

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 28.

300 publications have been identified in PubMed for immunodeficiency 28. Research spans Epidemiology / Natural History (52%), Clinical Trial Publication (17%), and Basic Science / Preclinical (11%).

Research Type	Count	% of Total
Disease patterns and progression	155	52%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 8:09 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614889

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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immunodeficiency 28

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

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