Alberto Iannuzzo's research (Dynamics of the cytoskeleton-dependent responses of immune cells) focuses on the molecular mechanisms responsible for autoinflammatory syndromes linked to mutations in the CDC42 gene, a GTPase essential for the regulation of the cytoskeleton and immune functions. His doctoral work aims to understand how specific genetic alterations disrupt intracellular organization and trigger pathological inflammatory responses.

During his PhD, Alberto Iannuzzo developed an approach combining cell biology, functional analyses, and the exploration of inflammatory signaling pathways. His work has shown that certain mutations in CDC42, particularly those leading to retention of mutated proteins in the Golgi apparatus, impair COPI-dependent vesicular transport, induce endoplasmic reticulum stress, and aberrantly hyperactivate the NF-κB and type I interferon pathways. Other variants, however, selectively activate the Pyrin inflammasome through distinct mechanisms.

These results highlight the complexity of genotype-phenotype relationships in autoinflammatory diseases: different mutations in the same gene can deregulate distinct cellular pathways, while abnormalities affecting different genes can converge toward common pathogenic mechanisms.

Through an integrative and translational approach, Alberto Iannuzzo contributes to a better understanding of the cellular basis of systemic inflammation and to the development of precision medicine strategies based on the functional validation of genetic variants.