Hemophagocytic lymphohistiocytosis-like hyperinflammation due to a de novo mutation in DPP9.

ABSTRACT:

Background

Genetic defects in components of inflammasomes can cause autoinflammation. Biallelic loss-of-function mutations in dipeptidyl peptidase 9 (DPP9), a negative regulator of the NLRP1 and CARD8 inflammasomes, have recently been shown to cause an inborn error of immunity characterized by pancytopenia, skin manifestations, and increased susceptibility to infections.

Objective

We sought to study the molecular basis of autoinflammation in a patient with severe infancy-onset hyperinflammation associated with signs of fulminant hemophagocytic lymphohistiocytosis.

Methods

Using heterologous cell models as well as patient cells, we performed genetic, immunologic, and molecular investigations to identify the genetic cause and to assess the impact of the identified mutat

SUBMITTER: Wolf C 

PROVIDER: S-EPMC7615848 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature