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/...

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/...

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/...

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/...

In @jhumimmunity.org, 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/...

The natural history of a peculiar IEI:
IRF4 p.T95R combined immunodeficiency: Clinical features and transplant outcomes rupress.org/jhi/article/...

The increase in prevalence of type I IFN neutralizing auto-Abs in the elderly might not be genetically driven, making its study more challenging 😉
Autoantibodies neutralizing type I interferons in older twin pairs: Low concordance rupress.org/jhi/article/...

An important paper on the therapy of STAT1 GOF:
JAK-inhibitor treatment induces rapid yet incomplete immune reconstitution in STAT1 gain-of-function rupress.org/jhi/article/...

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/...

Autoantibodies neutralizing type I interferons in COVID-19 patients from southern Brazil rupress.org/jhi/article/...

How I Treat: Transplantation for primary immune regulatory diseases and inflammatory disorders rupress.org/jhi/article/...

NGS diagnosis of IEI in Oceania:
Management change following NGS diagnosis of inborn errors of immunity: The Australasian experience rupress.org/jhi/article/...

Management change following NGS diagnosis of inborn errors of immunity: The Australasian experience rupress.org/jhi/article/...

Life-threatening hepatic complications in children with ADA-SCID rupress.org/jhi/article/...

Antibody deficiency in myotonic dystrophy type 1: A differential diagnosis below the radar rupress.org/jhi/article/...

Jensen, Skouboe, Gervais, Mogensen et al. report the finding of #autoantibodies neutralizing type I IFNs in the blood and/or cerebrospinal fluid in a significantly elevated fraction of adults with HSV encephalitis (5%) compared with the general population rupress.org/jem/article/...

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/...

Mosaic TLR8 gain-of-function in an elderly female treated with JAK inhibitor and adjunctive therapy rupress.org/jhi/article/...

A fatal case of Aspergillus endocarditis in a pediatric patient with STING-associated vasculopathy rupress.org/jhi/article/...