Autoinflammatory syndrome in an infant with suspected sepsis

Abstract

Introduction: Autoinflammatory diseases encompass a group of rare pathologies characterized by acute and recurrent inflammatory episodes. Their clinical manifestations are very diverse and can affect practically any organ. The confirmatory diagnosis is based on genetic study but must be performed and interpreted correctly. Treatment with biologic drugs that block proinflammatory cytokines has been shown to be effective in a large proportion of patients. Case summary: 39-day-old infant admitted to intensive care with fever, skin lesions and marked irritability associated with acute respiratory failure and haemodynamic instability. On admission, he presented with a marked leukocytosis with neutrophilia and elevated inflammatory parameters without improvement despite antibiotic, antiviral and antifungal treatment. A thorough microbiological study was completed and no cause was found. After ruling out infectious, haematological and neoplastic causes, autoinflammatory disease was suspected. Finally, a genetic study revealed a pathogenic variant in the RIPK1 gene, and the patient was diagnosed with CRIA syndrome. Conclusion: Autoinflammatory diseases are unusual pathologies that should be suspected in cases of systemic inflammation in which autoimmune, neoplastic and infectious disorders are ruled out. Their diagnosis is complex due to clinical similarity and lack of specific criteria. Further studies on patients with RIPK1 gene alterations are needed to know in more detail their clinical features, response to treatment and prognosis.