Toward a monogenic architecture of human infections: from 1996 to 2026. New Perspective from Jean-Laurent Casanova @casanovalab.bsky.social:
rupress.org/jhi/article/...
#InbornErrorsOfImmunity #Autoimmunity #autoantibodies #ImmunologicalPhenotypes
@clinimmsoc.bsky.social @esidsociety.bsky.social
Except the unexpected: A TIPIC syndrome in a child with #IPEX. New report from Vincent Fréret, Agathe Escudier and colleagues @hopitalnecker.bsky.social:
rupress.org/jhi/article/...
#ImmunologicalPhenotypes #InbornErrorsOfImmunity #ClinicalPhenotypes #Diagnostics #FOXP3
Apolipoproteins L involvement in immunity. New Perspective from Etienne Pays @ulbruxelles.bsky.social: rupress.org/jhi/article/...
#Infections #autoantibodies #InbornErrorsOfImmunity #ImmunologicalPhenotypes
Quality of life of X-linked agammaglobulinemia patients in the United Kingdom. New study from Ben Shillitoe @sheffieldchildrens.bsky.social and colleagues: rupress.org/jhi/article-...
#ClinicalPhenotypes #ImmunologicalPhenotypes #InbornErrorsOfImmunity
The systemic effects of 22q11.2 deletion syndrome on immunity. New review from Nicolai van Oers (UT Southwestern) and Kathleen Sullivan (@childrensphila.bsky.social): rupress.org/jhi/article/...
@clinimmsoc.bsky.social
#InbornErrorsOfImmunity #ImmunologicalPhenotypes #TCellDeficiencies
Treatment of severe refractory immune #neutropenia with #ruxolitinib: Two cases. New report from Richard Schwarzkopf, Andrew Chen, Luke Chen & colleagues @dalhousie.bsky.social @ubcmedicine.bsky.social: rupress.org/jhi/article/...
🎥 See video summary: youtu.be/DE-OeHYUb1U
#ImmunologicalPhenotypes
A compound heterozygous case of leukocyte adhesion deficiency type-1 with moderate CD18 expression and severe disease. New report from Jeremy Brozyna and colleagues (University of Alabama at Birmingham): rupress.org/jhi/article/...
#InbornErrorsOfImmunity #ImmunologicalPhenotypes
