Jérémie Rosain
@jrosain.bsky.social
Immunologist @casanovalab.bsky.social. Interest for rare genetic disorders affecting immunity. Located in @institutimagine.bsky.social @upcite.bsky.social
@hopitalnecker.bsky.social
@hopitalnecker.bsky.social
Very interesting report of an international cohort with autosomal dominant PU.1 deficiency. Variable expressity and incomplete penetrance, like for many haploinsufficient disorders | One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them | shorturl.at/bxw9S
January 26, 2025 at 9:57 AM
Very interesting report of an international cohort with autosomal dominant PU.1 deficiency. Variable expressity and incomplete penetrance, like for many haploinsufficient disorders | One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them | shorturl.at/bxw9S