Iglesias-Herrero, Schrijvers et al. longitudinally assess JAK-inhibitor treatment response in two patients w/ #STAT1 gain-of-function & show that it induces rapid but incomplete immune reconstitution, w/ increased TCR diversity and reversal of monocyte hyperinflammation. rupress.org/jhi/article/...

Clemmensen, Mørk, Mogensen et al. investigated the heredity of IFN-I #autoantibodies in adults in a large Danish twin cohort of 1,318 twin pairs. Overall, the data do not support a strong familial aggregation, as reflected by a low concordance rate for IFN-I auto-Abs. rupress.org/jhi/article/...

@turveylab.bsky.social

Stojcic et al. provide the first comprehensive description of the clinical phenotype and outcomes of all known patients w/ the heterozygous IRF4 p.T95R variant, analyzing 10 affected individuals and identifying shared clinical features, treatment responses & outcomes:
rupress.org/jhi/article/...

Management 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

Life-threatening hepatic complications in children with ADA-SCID. New report from Ridhima Aggarwal, Konstantinos Vazouras and colleagues @ucl.ac.uk: rupress.org/jhi/article/...

#InbornErrorsOfImmunity #ADASCID #SCID

Antibody 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/...

#InbornErrorsOfImmunity

@casanovalab.bsky.social

Sbruzzi, Vianna et al. show that neutralizing #autoantibodies against type I IFNs are more frequent in severe, critical, and fatal #COVID19 cases in southern Brazil, highlighting their role in disease severity and extending global evidence to a Latin American population. rupress.org/jhi/article/...

#HowITreat from Joseph Oved: In primary immune regulatory diseases and inflammatory disorders, targeted immune modulation may control symptoms for some, but alloHCT remains the only cure for many patients. rupress.org/jhi/article/...

#Infections #autoantibodies

Swamy, 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/...

Mosaic #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/...

#InbornErrorsOfImmunity

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/...

#InbornErrorsOfImmunity #SCID

Galli, Recher et al. @unibas.ch describe two patients with hypogammaglobulinemia associated with #MyotonicDystrophy type 1 (DM1), a rare and underdiagnosed monogenic neuromuscular disorder and provide clues to aid clinical immunologists in making a correct diagnosis. rupress.org/jhi/article/...

A 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

Skin biopsy in adult-onset Still's disease: A specific, rapid, and widely available diagnostic test. New study by Derrick H.Y. Chong, Luke Y.C. Chen (University of British Columbia) and colleagues:
rupress.org/jhi/article/...

#Autoinflammation #cytokines #AOSD

Human inborn errors of the phagocyte respiratory burst: chronic granulomatous disease and beyond. New review from Anna-Lena Neehus @alneehus.bsky.social, Vijay G. Sankaran @bloodgenes.bsky.social, Jean-Laurent Casanova @casanovalab.bsky.social, and Jacinta Bustamante:
rupress.org/jhi/article/...

Patel, @macattacklab.bsky.social, Zimmerman et al. describe an elderly woman w/ severe chronic #neutropenia caused by mosaic #TLR8 GOF, broadening a primarily pediatric, male disease spectrum & highlighting somatic mosaicism as an important diagnostic consideration rupress.org/jhi/article/...

High 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/...

#Autoimmunity #Infections #InbornErrorsOfImmunity