5️⃣ Valentina Guarnieri, Gabriela Booth et al. show that topical ruxolitinib induced rapid and sustained improvement of refractory skin #inflammation in a child w/ STAT1 GOF disease, highlighting its potential in managing localized inflammation in immune dysregulation. rupress.org/jhi/article/...

4️⃣ Inherited IL-18BP deficiency in two Egyptian siblings with fulminant viral hepatitis. A report by Dalia Abd Elaziz, Alperen Baran, Aysima Atilgan Lulecioglu, Hanaa El-Karaksy, @casanovalab.bsky.social, Serkan Belkaya, Emmanuelle Jouanguy and colleagues: rupress.org/jhi/article/...

3️⃣ This study from Schmitt et al. @macattacklab.bsky.social describes a patient with a predominantly neurological phenotype, who was found to have a mosaic STAT5B gain-of-function variant and was successfully treated with HCT. rupress.org/jhi/article/...

2️⃣ Yamashita, Kanegane et al. present a questionnaire-based study that provides insights into the current healthcare infrastructure used to diagnose & manage #InbornErrorsOfImmunity across countries & regions involved in the Asia-Pacific Society for Immunodeficiencies rupress.org/jhi/article/...

1️⃣ An autosomal complete recessive IFN-γR1 deficiency presented with M. #tuberculosis infection resembling BCG infection. From Sara Espinosa-Padilla, Lizbeth Blancas-Galicia and colleagues (National Institute of Pediatrics, Mexico): rupress.org/jhi/article/...

5️⃣ #InbornErrorsOfImmunity affecting the MHC class I pathway for antigen presentation. A review from Stephan Gadola, Hans-Gustaf Ljunggren and colleagues 👉 rupress.org/jhi/article/...

4️⃣ Dusan Bogunovic @bogunoviclab.bsky.social reviews how incomplete penetrance in genetic disorders can be influenced by genetic variant quality, genetic and epigenetic modification, environment, and mosaicism. rupress.org/jhi/article/...

3️⃣ This review from Ahmet Eken, Elena Hsieh et al. unmasks the significant, yet understudied, role of innate lymphoid cells in #InbornErrorsOfImmunity. The authors examine how these “behind the scenes” immune components contribute to monogenetic immune disorders rupress.org/jhi/article/...

2️⃣ Kanegane et al. review several unresolved issues in the pathogenesis of X-linked agammaglobulinemia (XLA), including non-coding BTK variants, contiguous deletion syndrome, #Helicobacter infection, non-infectious #neurodegeneration, renal involvement, and malignancies. rupress.org/jhi/article/...

1️⃣ The inaugural editorial by Jean-Laurent Casanova @casanovalab.bsky.social outlines #JHI’s vision as the destination for groundbreaking research in human immunity and #InbornErrorsOfImmunity 👉 rupress.org/jhi/article/...

#1: Poli et al. present the 2024 update of the @iuis-online.bsky.social classification of human #InbornErrorsOfImmunity including 67 novel monogenic defects and 2 new phenocopies. rupress.org/jhi/article/...

#2 Bousfiha et al. present a decision tree-based diagnostic guide to human #InbornErrorsOfImmunity for physicians based on the 2024 update of the @iuis-online.bsky.social expert committee: rupress.org/jhi/article/...