Complete and partial forms of X-linked MCTS1 deficiency in patients with mycobacterial disease. New study by Qinhua Zhou (Fudan University), Jacinta Bustamante @institutimagine.bsky.social, Jonathan Bohlen @jonathanbohlen.bsky.social @lmumuenchen.bsky.social & colleagues rupress.org/jhi/article/...

New paper in the Journal of Human Immunity! We report complete and partial forms of X-linked MCTS1 deficiency in patients with mycobacterial disease -- four new families from Iran, Oman, China, and the USA. doi.org/10.70962/jhi...

X-linked MCTS1 deficiency causes susceptibility to mycobacterial disease. In @jhumimmunity.org, Zhou et al. show that report 4 new patients carrying 3 previously undescribed truncating or loss-of-expression variants, presenting w/ BCG disease or M. abscessus infection. rupress.org/jhi/article/...

X-linked MCTS1 deficiency causes susceptibility to mycobacterial disease. Zhou, Bustamante, Bohlen et al. show that report 4 new patients carrying 3 previously undescribed truncating or loss-of-expression variants, presenting w/ BCG disease or M. abscessus infection. rupress.org/jhi/article/...

Our lab website is live! 🥳 We study how mRNA translation controls immune cell function and how defects in the protein synthesis machinery cause human disease. Come say hello and learn about what we do at the Gene Center Munich. bohlenlab.com

Active transport of tRNAs facilitates distributed protein synthesis https://www.biorxiv.org/content/10.64898/2026.01.26.698744v1

🙌 Herzlichen Glückwunsch! @jonathanbohlen.bsky.social und Jiamin Hou wurden von der @dfg.de im Rahmen des Emmy Noether-Programms ausgezeichnet. Die Fördersumme beträgt jeweils 1,85 Mio. Euro für einen Zeitraum von sechs Jahren. #LMUMuenchen #Astrophysik #Molekularbiologie www.lmu.de/de/newsroom/...

I don't want to be a huge stickler and I actually really like this paper, congrats to the authors for the nice work. But isn't the use of human eyes in the graphical abstract rather misleading for a paper that contains entirely mouse experiments?

🥳 We are excited to share the first publication from the Bohlen Lab! "Somatic deficiency of the human E3 ubiquitin ligase CBL in leukocytes impairs B but not T cell development and function" www.nature.com/articles/s41... together with the Tangye Lab and @bloodgenes.bsky.social and many more! 1/n

Honored to get this opportunity to build out my team and explore molecular immunology!

📣Publication alert! A team led by Roland Beckmann shows: Ribosome collisions activate the kinase ZAK and thus trigger the ribotoxic stress response — a key mechanism of the cellular stress defense. More about it here👇 www.lmu.de/en/newsroom/...

How does the kinase ZAK sense ribosome collisions? Find out in our latest collaboration with the @greenlab.bsky.social @doubleshuang.bsky.social @Vienna Huso: 1/4 rdcu.be/eRmJl #ribosome #cryoEM #LMU #JHMI

Whipple's disease was an inflammatory condition for decades, it became an infectious disease some years ago, and it is now becoming a genetic disorder: IRF4 haploinsufficiency in a multiplex family with Whipple’s disease url: rupress.org/jhi/article/...

In less than 8 months, @jhumimmunity has published 56 papers (rupress.org/jhi), including 10 already on PubMed (pubmed.ncbi.nlm.nih.gov?term=j+hum+i...). Please submit studies of human inborn errors of immunity and their phenocopies (rupress.org/jhi/article-...) !

We report a 5'UTR variant in YEATS4 that confers resistance to tuberculosis through altering the translation of the YEATS4 open-reading frame! Congrats to Clement Conil and colleagues at @casanovalab.bsky.social! It was fun to help with this story! link.springer.com/article/10.1...

New in @jhumimmunity.org: Tristan van der Linden, András Spaan et al. describe and characterize six unrelated patients with #OTULIN #haploinsufficiency, in whom severe #necrosis followed infectious and/or traumatic triggers. rupress.org/jhi/article/... #Staphylococcus #Ubiquitin

Huge variability documented in how publishers respond when informed about a problematic body of work by a research group. www.jclinepi.com/article/S089... #publishers #retractions

A MUST-READ Review on Penetrance of Human Monogenic Inborn Errors (of Immunity, or not): Incomplete penetrance in inborn errors of immunity: A skeleton in the closet—The sequel url: rupress.org/jhi/article/...

Latest by us! An mRNA-based broad-spectrum antiviral inspired by ISG15 deficiency protects against viral infections in vitro and in vivo | Science Translational Medicine www.science.org/doi/10.1126/...

Excited to participate in this symposium!

Very nice review on genetic insights to B cell development: rupress.org/jhi/article/... by @alneehus.bsky.social and @bloodgenes.bsky.social

🥳Amazing publication from the Hornung lab, in collab. with the Carell lab, on the innate immune system: how modified RNA tricks the immune system. Big shout-out to the two first authors, Marleen Bérouti and Mirko Wagner! www.cell.com/cell/fulltex... @v-hornung.bsky.social @m-berouti.bsky.social

@nbellono.bsky.social and colleagues observed that Elysia sea slugs steal chloroplasts from algae and store them in specialized organelles called kleptosomes. During times of starvation, this allows them to photosynthesize in support of their energy needs! 🧪 www.cell.com/cell/abstrac...

No evidence for neutralizing IL1RN autoantibodies in our cohorts of MIS-C, SARS-CoV2 pneumonia or vaccine-induced myocarditis. onlinelibrary.wiley.com/doi/10.1111/... Great work by Anish Behere in Nils Landegren lab, Uppsala university

We are looking for motivated Master Students who are interested to start an internship or thesis in the fall. The project will focus on molecular biology of mRNA translation and is a great opportunity to master some staple methods. Please get in touch @genecenter-lmu.bsky.social tinyurl.com/3f3kwmja

Comprehensive and convincing report of a new IEI, with just a single patient! Congrats Stuart and the team. Stellar!

Wow, very cool and unexpected findings!

Fascinating!

A PhD position is open in my group here in Heidelberg. We'll use cool primary cell models of osteosarcoma and genetic screens to understand and overcome mechanisms of clinically acquired drug resistance. It'll be a blast! karriere.klinikum.uni-heidelberg.de/index.php?ac...

Excited to welcome Evan and exchange ideas!

1/ One of the most intriguing enigmas of the #COVID19 pandemic was the sudden and unprecedented outbreak of chilblains that accompanied the early waves of #SARSCoV2 infections. Our new study in @jem.org uncovers the underlying immunological mechanism rupress.org/jem/article/...

Role of clonal inflammatory microglia in histiocytosis-associated neurodegeneration: Neuron www.cell.com/neuron/fullt...

*******JOB ALERT********* Join our team as a Postdoc or Research Assistant investigating the genetic basis of life-threatening infections in children @imperialcollege . Apply now 🔗 rb.gy/1c6b3n #ScienceJobs #Postdoc #Immunology #IEI #Humangenetics @imperialinfect.bsky.social

Very cool and surprising! A transcription factor is also a translation factor: www.biorxiv.org/content/10.1...

Amazing stuff from @marvintanenbaum.bsky.social! Long-term imaging of individual ribosomes reveals ribosome cooperativity in mRNA translation: Cell www.cell.com/cell/fulltex... #RNAsky #RNABiology

Our paper out @Nature: CARD domains mediate anti-phage defense in bacterial gasdermin systems CARDs are essential for caspase recruitment during human inflammasome activation. We now find them in bacterial immune systems Congrats Tana Wein! Thank you Kranzusch lab! www.nature.com/articles/s41...

Executive order to stop conducting science. For many years the NIH and public health was a bipartisan effort, one of the biggest supporters of rare disease research (my field) in the Senate was republican Roy Blunt (R, MO). No more. All rational thinking is absent from the current administration.

1/ We are proud of our former trainees and will be highlighting their accomplishments from time-to-time. First up is Satoshi Okada, appointed Chief Professor of the Department of Pediatrics at Hiroshima University in 2020 and advanced to Head of the Program of Medicine in 2024.

Excited to launch this new journal with a great team, and the support of both RUP and IAPIDS, and the entire community of human inborn errors of immunity !

Welcome to the future of #HumanImmunity research! @rupress.org and the International Alliance for Primary Immunodeficiency Societies (#IAPIDS) are launching the Journal of Human Immunity (JHI)! Stay tuned for groundbreaking, #OpenAccess research! 👉 https://buff.ly/4ajqm8W

This is an amazing initiative of all the major societies of immunodeficiency! A non-profit journal for human immunology housed as within the Rockefeller Press. That's great news. I am excited to be involved in the greater editorial board.

New paper is up! Elephant skin collagen is all tangled up! Theead coming up in a few hours! www.nature.com/articles/s42...

What Happens When Some Cells Are More Dad Than Mom (and Vice Versa)? Latest from us. Published today. News here www.cuimc.columbia.edu/news/what-ha... article here: www.nature.com/articles/s41... @stewart_ojay @BogunovicLab and a huge international team thank you 🙏🏼

Awesome method that should help so many translation-focused labs! Congrats Evan 😀

Excellent paper from my former colleague Fadh at the @casanovalab.bsky.social !!! So surprising to have differential defects for the different T1 interferons.

First paper of our lab today @natureportfolio.bsky.social by Nussi! We provide a real-time movie on how #transcription and #translation cooperate using #single-molecule FM: we find long-range #ribosome/ RNAP communication mediated by #RNA looping! @embl.org #RNAbiology #RNASky t.co/a24Xxcxdo0

📢 Postdoc opening! 📢 @soreklab.bsky.social and we are looking for outstanding candidates for a position at the intersection of computational biology & innate immunity. Dive into impactful research in two dynamic fields. Interested? Let’s connect! 👇 www.genzentrum.uni-muenchen.de/career/postd...

TTC5 and tubulin mRNA regulation is such a cool topic! In parallel to the growing molecular understanding of this pathway, we're also learning about it's physiological role in development and neurology: pubmed.ncbi.nlm.nih.gov/32439809/ Amazing!!

I’m excited to announce our new paper that came out today! The second chapter of my Post-doc @casanova_lab, published in @jclinical-invest.bsky.social If you’re interested in the causes of autoinflammation, then this one is for you: t.co/uhVDdzqyx2