Immunodeficiency-congenital…

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Immunodeficiency-congenital thrombocytopenia-hypereosinophilia-colitis-vasculitis syndrome

ORPHA:714496Disease

Also called ARPC1B-related hypereosinophilia-congenital thrombocytopenia-colitis-vasculitis syndrome

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
Neonatal
Inheritance
Autosomal recessive
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

ARPC1BDisease-causing germline mutation(s) (loss of function)

Cross-references

OMIM 617718

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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