HUMORAL IMMUNE COMPROMISE WITH AUTOINFLAMMATORY DISEASE DUE TO MUTATION IN NLRP12

MOREIRA, I.; SEMINARIO, A. G.; REGAIRAZ, LORENA; CALDIROLA, MARÍA SOLEDAD; BEZRODNIK, LILIANA

genova

Congreso; 10th ISSAID International Congress; 2019

International Society of Systemic Auto-Inflammatory Diseases

Introduction: The hereditary periodic fevers, compromise a group of mendelian autoinflammatory disorders characterized by recurrent episodes of fever and systemic inflammation, sometimes complicated with amyloidosisObjectives: Report a case of periodic fever syndrome due to NLRP12 mutation, with humoral immune compromise.Methods: Retrospective analysis of a clinical history of a patient with primary immunodeficiency with humoral compromise and autoinflammatory syndromeResults: Boy 8y.o. with recurrent severe fever episodes, since 1y.o. The crises were like bacteremia with severe abdominal pain, arthralgia and rash with high levels of CRP and ESR. In skin biopsy, it was observed neutrophilic vasculitis. He suffered several bronchospasm sinusitis and acute otitis media. IgG and IgA low levels, not response to pneumococcal antobodies and low post switched memory B cells. No improvement with antibiotic prophylaxis. Due to its humoral immune defect, he started intravenous gammaglobulin (IVIG) 800mg/kg/dose. He presented in the evolution coxsackie B type3 in stool, negative in CFS, needing high doses of weekly IVIG with good response and no relapse until today. As our patient presented recurrent infections, with hypogammaglobulinemia and autoinflammatory syndrome we studied ADA activity (NORMAL). Molecular studies have been done, heterozygous mutation in NLRP12, was found. The infections improved but severe episodes of abdominal pain and does not get better with colchicine treatment.Today his treatment is IVIG, and oral budesonide. An endoscopy study to rule out amyloidosis is pending.Conclusion: We want to present a patient with humoral defect and autoinflammatory diseases, due to NLRP12 mutations and demonstrate the crucial role of NLRP12 in inflammatory signaling pathways.