Abstract
Abstracts from the ISSAID 2021 Periodic Congress
Highlights
Systemic Auto Inflammatory Diseases(SAID) is a group of rare hereditary fever syndromes
In summary, these results provide a mechanistic explanation for the strong inflammatory manifestations associated to COVID-19 and further evidence that NLRP3 and IL-1β targeting could represent an effective strategy in this disease
Even if lactate dehydrogenase (LDH) is not included in 2016 classification criteria for Macrophage Activation Syndrome (MAS) in sJIA, we have found that this parameter could help to discriminate MAS in sJIA, in addition to the others
Summary
Systemic Auto Inflammatory Diseases(SAID) is a group of rare hereditary fever syndromes. Systemic autoinflammatory diseases (SAIDs) delineate a group of clinical entities caused by an anomaly of the innate immune response that includes rare periodic fever syndromes characterized by uncontrolled production of the proinflammatory cytokine interleukin-1 (IL-1) Patients suffering from these conditions experience severe and recurrent inflammation ranging from fevers to gradual hearing loss, blindness, and organ failure due to amyloid accumulation. At 13-years-old, new DNA samples were obtained from the patient and his parents and the genetic autoinflammatory disease study was widen by capturing and sequencing the flanking exonic and intronic areas of the following 17 genes: MEFV, MVK, TNFRSF1A, NOD2, NLRP3, NLRC4, NLRP12, IL1RN, IL6RN, PLCG2, PSTPIP1, CARD14, TMEM173, PSSMB8, LPIN2, CECR1 and TNFAIP3. Medical professionals should pay more attention to these information before administering the vaccine
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