@jhumimmunity.orgManagement change following NGS diagnosis of inborn errors of immunity: The Australasian experience. Shruti Swamy, Paul E. Gray, Stuart G. Tangye and colleagues:
rupress.org/jhi/article/...
#ClinicalPhenotypes #Therapeutics #InbornErrorsOfImmunity #Diagnostics
@jhumimmunity.orgLife-threatening hepatic complications in children with ADA-SCID. New report from Ridhima Aggarwal, Konstantinos Vazouras and colleagues @ucl.ac.uk: rupress.org/jhi/article/...
@jhumimmunity.orgAntibody deficiency in #MyotonicDystrophy type 1: A differential diagnosis below the radar. New report from Edoardo Galli, Mike Recher and colleagues @biomedizin.unibas.ch @unibas.ch:
rupress.org/jhi/article/...
@rupress.orgIn @jhumimmunity.org, Swamy et al. describe an Australian/New Zealand cohort where identification of monogenic #InbornErrorsOfImmunity through next-generation sequencing resulted in management change in 84% of cases including guiding #HSCT & initiating targeted treatment. rupress.org/jhi/article/...
@jhumimmunity.orgSwamy, Gray, Tangye et al. describe an Australian/New Zealand cohort where identification of monogenic #InbornErrorsOfImmunity through next-generation sequencing resulted in management change in 84% of cases including guiding #HSCT and initiating targeted treatment. rupress.org/jhi/article/...
@jhumimmunity.orgMosaic #TLR8 gain-of-function in an elderly female treated with JAK inhibitor and adjunctive therapy. New report from Jenny A. Patel, Megan A. Cooper @macattacklab.bsky.social, Ofer Zimmerman and colleagues @washumedicine.bsky.social:
rupress.org/jhi/article/...
@rupress.orgIn @jhumimmunity.org, Aggarwal, Vazouras et al. @ucl.ac.uk report two cases of #ADASCID complicated by severe hepatic manifestations, including hepatoblastoma and infantile hepatic hemangiomatosis. rupress.org/jhi/article/...
@jhumimmunity.orgAggarwal, Vazouras et al. @ucl.ac.uk report two cases of #ADASCID complicated by severe hepatic manifestations, including hepatoblastoma and infantile hepatic hemangiomatosis. rupress.org/jhi/article/...
@jhumimmunity.orgA fatal case of #Aspergillus #endocarditis in a pediatric patient with STING-associated vasculopathy. New report from Ambre Dethier, Bénédicte Neven @upcite.bsky.social et al.:
rupress.org/jhi/article/...
#InfectiousDiseases #PopulationGenetics #InbornErrorsOfImmunity #Autoinflammation #SAVI
@jhumimmunity.orgHigh prevalence of #autoantibodies neutralizing type I IFNs in Japanese patients with #hepatitis C. New study from Maki Taniguchi, Satoshi Okada and colleagues (Hiroshima University):
rupress.org/jhi/article/...
@jhumimmunity.orgA possible founder IRAK4 variant in Okinawa, Japan. New report from Dan Tomomasa, Hirokazu Kanegane (Institute of Science Tokyo) and colleagues:
rupress.org/jhi/article/...
#InfectiousDiseases #PopulationGenetics #InbornErrorsOfImmunity
@jhumimmunity.orgER #proteostasis failure in HYOU1 deficiency alters #Bcells, #neutrophils, and #interferon signaling. New study from Aida Idani, Raphael Carapito, Seiamak Bahram @seiamak.bsky.social @unistra.fr and colleagues:
rupress.org/jhi/article/...
@jhumimmunity.orgBase 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/...
