Common variable immunodeficiency phenotype

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Common variable immunodeficiency phenotype due to IRF2BP2 deficiency

ORPHA:696904Disease

Also called CVID phenotype due to IRF2BP2 deficiency · Common variable immunodeficiency phenotype due to IFN regulatory factor-2 binding protein 2 deficiency

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Prevalence
<1 / 1 000 000
Age of onset
Adolescent, Childhood
Inheritance
Autosomal dominant
Classified as
Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Gene

IRF2BP2Disease-causing germline mutation(s) (gain of function)

Cross-references

OMIM 617765

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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