CDC42 mutation related to systemic inflammatory response with severe repercussions in a 17 years old patient: a case report

The CDC42 gene is a member of the family of small Rho GTPases, which performs a wide spectrum of physiological functions in regulating the cell cycle (adhesion, polarity, proliferation, migration, motility and activation of cell transcription). Its mutation can result in a heterogeneous group of phenotype and manifestations. If the mutation occurs in the C-terminal portion (determined by exome genetic examination), together with clinical criteria (pancytopenia, auto-inflammation, skin rash and episodes of hemophagocytic lymphohistiocytosis), NOCARH syndrome will be characterized. Treatment can be carried out with corticosteroids, immunosuppressants, immunomodulators or monoclonal antibodies, with the definitive treatment being hematopoietic stem cell transplantation. This case report aims to add knowledge about NOCARH syndrome, which is complex syndrome and still little known in the literature, helping with earlier diagnosis as well as adequate and timely intervention.