AUTHOR=Xie Mingyu , Wan Jingjing , Zheng Xin , Zou Xian , Chen Wanting , Zhang Kanglin , Yuan Huiting , Zhang Zhenhong , Zeng Haisheng 

TITLE=Case Report: A de novo NLRP3 variant resulting in autoinflammatory disease in a Chinese newborn

JOURNAL=Frontiers in Immunology

VOLUME=14

YEAR=2023

URL=https://www.frontiersin.org/journals/immunology/articles/10.3389/fimmu.2023.1238551

DOI=10.3389/fimmu.2023.1238551

ISSN=1664-3224

ABSTRACT=<sec><title>Background</title><p>Cryopyrin-associated periodic syndromes (CAPS) have been considered autoinflammatory diseases resulting from <italic>NLRP3</italic> gene mutations. In recent years, these conditions have been redefined as <italic>NLRP3</italic>-associated autoinflammatory diseases (<italic>NLRP3</italic>-AID). Our previous study highlighted a case of a Chinese individual carrying the <italic>de novo NLRP3</italic> mutation.</p></sec><sec><title>Results</title><p>A female child carrying a <italic>de novo</italic> variant (c.1718T&gt;G, p. L573W) in the <italic>NLRP3</italic> gene was presented in this work. The patient manifested various symptoms, including recurrent fever, a rash resembling urticaria, arthritis, physical growth retardation, a notable prominence of the forehead, and a flat nose bridge. Additionally, inflammatory markers, like WBC count, PLT count, CRP, ESR, and IL-6 showed elevated levels. Additionally, we observed interstitial pulmonary disease in the patient, which is not frequently mentioned in previous studies. Notably, the proband did not present with any ocular, auditory, or neurological symptoms. After 12 weeks of subcutaneous canakinumab injection, there was a clear improvement in the patient’s clinical manifestations and inflammatory markers.</p></sec><sec><title>Conclusion</title><p>Our study contributes to broadening the clinical spectrum of established pathogenic variants of <italic>NLRP3</italic> gene, which are related to NLRP3-AID.</p></sec>