Congratulations @damien-glon.bsky.social !
Very happy to be involved in this study with @frl-lab.bsky.social !
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28.05.2025 07:24 — 👍 3 🔁 1 💬 0 📌 0
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27.05.2025 17:10 — 👍 0 🔁 0 💬 0 📌 0
Our findings suggest this approach offers a promising curative option for these patients.
Grateful to all collaborators, the editors of @bloodjournal.bsky.social , the reviewers and Emma C. Morris for her wonderful editorial!
24.05.2025 08:36 — 👍 0 🔁 0 💬 0 📌 0
This multicenter EBMT-IEWP study reports outcomes of haploidentical hematopoietic stem cell transplantation in patients with chronic granulomatous disease (CGD) lacking a matched donor.
24.05.2025 08:36 — 👍 0 🔁 0 💬 1 📌 0
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🎉 Excited to share the publication of our study in @bloodjournal.bsky.social , highlighted by an accompanying editorial!
📄 Article: doi.org/10.1182/bloo...
🖋 Editorial: doi.org/10.1182/bloo...
24.05.2025 08:36 — 👍 1 🔁 0 💬 1 📌 0
Graft failure remains challenging, with CI of grade 2 to 4 acute GVHD, but not grade 3 to 4, being significantly higher after PTCY. buff.ly/7VcLjgd #hemesky #transplantation
23.05.2025 17:02 — 👍 1 🔁 1 💬 0 📌 0
@quentinriller.bsky.social, @frl-lab.bsky.social et al. present the first case of biallelic CHUK mutations disrupting IKKα kinase function, broadening the understanding of non-canonical NF-κB defects rupress.org/jem/article/...
📘 In Genes & Immunity collection: rupress.org/jem/collecti...
#HKS2025
11.04.2025 09:15 — 👍 5 🔁 3 💬 0 📌 0
Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans
@jem.org
@quentinriller.bsky.social @frl-lab.bsky.social
doi.org/10.1084/jem....
15.01.2025 22:17 — 👍 5 🔁 4 💬 0 📌 0
This work was done in @institutimagine.bsky.social in the laboratory of @frl-lab.bsky.social with Bénédicte Neven and collaborators in France and Belgium @casanovalab.bsky.social @anne-puel.bsky.social
Many thanks to all co-authors!
15.01.2025 22:10 — 👍 5 🔁 2 💬 0 📌 0
Thrilled to share our latest in @jem.org! 🚨
A single patient with syndromic immunodeficiency led us to uncover that biallelic point mutations in the IKKα kinase domain disrupt the non-canonical and partially the canonical NF-kB pathway activation. Dive into the details! 🧬 #NFkB #Immunology
15.01.2025 22:06 — 👍 9 🔁 3 💬 1 📌 0
MD @APHP - PhD student @KarolinskaInstitutet
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MD, PhD. Clinician scientist @ Charité & DRFZ Berlin. Immunology | autoinflammation | pediatrics. ADA2 enthusiast & western blot devotee.
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Husband, dad of 3, MD internist w/ special interest in autoinflammatory disorders, PhD student @casanovalab.bsky.social
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PhD candidate in immunology studying the TGF-β signaling pathway and primary atopic disorders | Institut Imagine | Marathon runner
