Experts at ESID 2026 Advocate for Earlier Diagnosis of Secondary Immunodeficiencies #Netherlands #Kedrion #Maastricht #immunodeficiency #ESID2026

#esid2026 #iei #pid #immunodeficiency #researchmatters #standupforscience

#FDA approves #Joenja for children with activated phosphoinositide 3-kinase delta syndrome (APDS): is the first treatment approved for #APDS, a rare #primary #immunodeficiency. www.healio.com/news/...

Human inherited RORγT deficiency encompasses genetic heterogeneity, T cell deficiency, and clinical homogeneity. New study from Iris Fagniez, Jean-Laurent Casanova @casanovalab.bsky.social, Rui Yang @ryangrui.bsky.social @rockefeller.edu & colleagues:
rupress.org/jem/article/...

#Immunodeficiency

Base editing reversal of radiation sensitivity in NHEJ1 #immunodeficiency. New study from Renuka Kadirkamanathan, Roland Preece, Waseem Qasim (Zayed Centre for Research @greatormondst.bsky.social) and colleagues:
rupress.org/jhi/article/...

#Diagnostics #InbornErrorsOfImmunity #immunodeficiencies

HYOU1 deficiency links ER #proteostasis failure to human #immunodeficiency. In @jhumimmunity.org, Idani, @seiamak.bsky.social et al. identify defective B-cell development, persistent #neutrophil abnormalities, & #interferon pathway dysregulation as key disease mechanisms rupress.org/jhi/article/...

HYOU1 deficiency links ER #proteostasis failure to human #immunodeficiency. Idani, Carapito, @seiamak.bsky.social et al. identify defective B-cell development, persistent #neutrophil abnormalities, & #interferon pathway dysregulation as key disease mechanisms. rupress.org/jhi/article/...

Temporal windowing of recurrent sinusitis improves EHR-based #immunodeficiency classification. New study from Aaron T Chin (UCLA) and colleagues:
rupress.org/jhi/article/...

#IEIs #Phenocopies #ClinicalPhenotypes #Diagnostics