CORDIS Project
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This project focuses on understanding human primary immunodeficiencies that affect immune cell function. It aims to identify genetic mutations linked to these conditions and improve diagnostic methods for better patient care.
Human primary immunodeficiencies affecting cytotoxic lymphocyte function are associated with high morbidity and mortality.
They often present as hyperinflammatory syndromes triggered by viral infections, hematological malignancies, or systemic autoimmunity.
Although recent advances have provided molecular diagnoses for some of the most severe cases, only a handful of genes have been identified and disease in a majority of patients cannot be explained by current insights.
My work has elucidated f…
KAROLINSKA INSTITUTET
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