Chronic Granulomatous Disease-Like Presentation of a Child with Autosomal Recessive PKCδ Deficiency.
Anna-Lena NeehusKaren TuanoTom Le VoyerSarada L NandiwadaKruthi MurthyAnne PuelJean-Laurent CasanovaJavier ChinenJacinta BustamantePublished in: Journal of clinical immunology (2022)
PKCδ deficiency should be considered in young patients with CGD-like clinical manifestations and abnormal DHR assay results, even in the absence of clinical and biological manifestations of autoimmunity.