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Is Primary Immunodeficiency Genetic?
- Heritability
- ~90%
- Inheritance
- x-linked
- Key genes
- BTK RAG1 ADA
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Over 400 primary immunodeficiencies have been described. X-linked agammaglobulinaemia (BTK) and SCID (RAG1/ADA) are prototypic examples.
How Genetic Is Primary Immunodeficiency?
Primary Immunodeficiency has a strong genetic basis. Research estimates heritability at approximately 90%, meaning genetic factors account for the majority of variation in whether individuals develop this condition.
Key genes associated with Primary Immunodeficiency: BTK RAG1 ADA. Variants in these genes have been identified through genome-wide association studies (GWAS) and clinical research as influencing susceptibility or severity.
Source: MedlinePlus Genetics
Does Family History Matter for Primary Immunodeficiency?
Yes — family history is one of the strongest predictors of Primary Immunodeficiency. If a first-degree relative (parent, sibling, or child) has been diagnosed, your own risk may be significantly elevated. Discussing your family history with a healthcare provider or genetic counsellor is strongly recommended.
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