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Pulmonary Alveolar Proteinosis and Multiple Infectious Diseases in a Child with Autosomal Recessive Complete IRF8 Deficiency.

Jérémie RosainAndrea BernasconiEmma PrietoLucia CaputiTom Le VoyerGuadalupe BudaMarcelo MartiJonathan BohlenAnna-Lena NeehusClaudio CastañosRosario GallagherKarim DorghamMatias OleastroLaura PerezSilvia DanielianJose Edgardo DipierriJean Laurent CasanovaJacinta BustamanteMariana Villa
Published in: Journal of clinical immunology (2022)
We describe the fourth patient with AR complete IRF8 deficiency. This diagnosis should be considered in children with PAP, which is probably due to the defective development or function of alveolar macrophages.
Keyphrases
  • infectious diseases
  • dendritic cells
  • young adults
  • pulmonary hypertension
  • replacement therapy
  • case report
  • mental health
  • intellectual disability
  • muscular dystrophy