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

ABSTRACT:

Background

Cryopyrin-associated periodic syndromes (CAPS) have been considered autoinflammatory diseases resulting from NLRP3 gene mutations. In recent years, these conditions have been redefined as NLRP3-associated autoinflammatory diseases (NLRP3-AID). Our previous study highlighted a case of a Chinese individual carrying the de novo NLRP3 mutation.

Results

A female child carrying a de novo variant (c.1718T>G, p. L573W) in the NLRP3 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,

SUBMITTER: Xie M 

PROVIDER: S-EPMC10579556 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature