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CTLA-4 Haploinsufficiency

CTLA-4 haploinsufficiency is a genetic disorder caused by a mutation in one copy of the CTLA-4 gene, leading to reduced CTLA-4 protein production. This results in a range of immune dysregulation issues, including autoimmunity, lymphoproliferation, and immunodeficiency

Prevalence

2/100,000

150–400

US Estimated

200–600

Europe Estimated

Age of Onset

All ages

ICD-10

D89.8

Inheritance

Autosomal dominant

Autosomal recessive

Mitochondrial/Multigenic

X-linked dominant

X-linked recessive

5 Facts you should know

FACT

CTLA-4 haploinsufficiency leads to a breakdown in immune tolerance, causing lymphoproliferation and multiple autoimmune manifestations, including cytopenias and enteropathy

FACT

Not all individuals with CTLA-4 mutations develop symptoms; affected members of the same family may exhibit very different clinical presentations

FACT

These are frequent findings, often accompanied by recurrent infections due to impaired immune regulation

FACT

This CTLA-4-Ig fusion protein can help manage autoimmunity by mimicking the regulatory function of CTLA-4

FACT

Early molecular diagnosis enables timely immunologic monitoring, family screening, and potential disease-modifying interventions

Interest over time

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