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

BACKGROUND: Autosomal recessive (AR) complete IRF8 deficiency is a rare severe inborn error of immunity underlying an absence of blood myeloid mononuclear cells, intracerebral calcifications, and multiple infections. Only three unrelated patients have been reported. MATERIALS AND METHODS: We studied...

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Detalles Bibliográficos
Autores principales: Rosain, Jérémie, Bernasconi, Andrea, Prieto, Emma, Caputi, Lucia, Le Voyer, Tom, Buda, Guadalupe, Marti, Marcelo, Bohlen, Jonathan, Neehus, Anna-Lena, Castaños, Claudio, Gallagher, Rosario, Dorgham, Karim, Oleastro, Matias, Perez, Laura, Danielian, Silvia, Dipierri, Jose Edgardo, Casanova, Jean-Laurent, Bustamante, Jacinta, Villa, Mariana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8956456/
https://www.ncbi.nlm.nih.gov/pubmed/35338423
http://dx.doi.org/10.1007/s10875-022-01250-4

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