Chronic Granulomatous Disease-Like Presentation of a Child with Autosomal Recessive PKCδ Deficiency.

ABSTRACT:

Background

Autosomal recessive (AR) PKCδ deficiency is a rare inborn error of immunity (IEI) characterized by autoimmunity and susceptibility to bacterial, fungal, and viral infections. PKCδ is involved in the intracellular production of reactive oxidative species (ROS).

Material and methods

We studied a 5-year old girl presenting with a history of Burkholderia cepacia infection. She had no history of autoimmunity, lymphocyte counts were normal, and no auto-antibodies were detected in her plasma. We performed a targeted panel analysis of 407 immunity-related genes and immunological investigations of the underlying genetic condition in this patient.

Results

Consistent with a history suggestive of chronic granulomatous disease (CGD), oxidative burst impairment was obser

SUBMITTER: Neehus AL 

PROVIDER: S-EPMC9537221 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature