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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 Bustamante
Published 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.
Keyphrases
  • replacement therapy
  • mental health
  • high throughput
  • intellectual disability
  • protein kinase
  • interstitial lung disease
  • middle aged
  • rheumatoid arthritis
  • systemic sclerosis
  • smoking cessation