Autoinflammatory Recurrent Pericarditis Associated with a New NLRP12 Mutation in a Male Adolescent

Area of Science:

• Pediatric Rheumatology
• Genetics
• Immunology

Background:

• Idiopathic recurrent pericarditis (IRP) presents with chest pain and can be part of a systemic autoinflammatory disease (SAID).
• Several SAIDs, including Familial Mediterranean Fever (FMF) and Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS), share clinical features with IRP and respond to anti-interleukin-1 (IL-1) therapy.
• NLRP12-related autoinflammatory disease (NLRP12-AID) is a rare, autosomal dominant disorder caused by NLRP12 gene mutations, primarily affecting children.

Observation:

• A male adolescent with relapsing pericarditis responsive to anti-IL-1 therapy was identified.
• This patient carried a missense mutation in the NLRP12 gene.
• This presentation is unique as no prior cases of NLRP12-AID reported pericarditis.

Findings:

• The patient's recurrent pericarditis was associated with a potentially causative NLRP12 gene mutation.
• The findings suggest that NLRP12-AID can manifest as recurrent pericarditis in adolescents.
• The NLRP12 inflammasome may play a role in recurrent pericardial inflammation.

Implications:

• This case expands the known clinical spectrum of NLRP12-AID.
• It highlights the importance of considering NLRP12-AID in adolescents with unexplained recurrent pericarditis.
• Further research into the NLRP12 inflammasome's role in pericarditis is warranted.