Rare variants in CYBB (encoding gp91phox) are responsible for chronic granulomatous disease. In @jhumimmunity.org, Roelens, Bustamante et al. report a patient affected by multiple cerebral abscesses caused by #Acanthamoeba sp. and complete gp91phox deficiency. rupress.org/jhi/article/...
#CGD
Commentary @jgp.org: Schmidt and Kopec @mpi-nat.bsky.social discuss how Lopez-Mateos et al. @vyy-sf.bsky.social (rupress.org/jgp/article/...) used AlphaFold 2 to generate structural ensembles of voltage-gated sodium channels across different conformations. rupress.org/jgp/article/...
#IonChannels
In a separate cohort, they identify asymptomatic individuals lacking the HAQ allele and an HAQ-positive COPA patient with kidney disease, suggesting that STING haplotype alone does not fully account for disease expression in COPA syndrome.
In @jem.org, David, @mlfremond.bsky.social et al. investigate whether the common HAQ STING allele explains clinical non-penetrance in COPA syndrome. rupress.org/jem/article/...
#HumanDiseaseGenetics #InnateImmunity #inflammation
In @jcb.org, Hao, Suzuki et al. @utokyoofficial.bsky.social report that lipophilic dye octadecyl rhodamine B (R18) is transported to the ER mediated by #membrane transfer proteins. During #autophagy, ER-resident R18 is transferred to the autophagic membrane via Atg2. rupress.org/jcb/article/...
The mechanism by which the conserved Ypt1/Rab1 #GTPases mediate the beginning of #secretion and #autophagy is unknown. In @jcb.org, Gyurkovska, Segev et al. use in vivo analysis to show that distinct TRAPP complexes activate the yeast Ypt1 in secretion and autophagy rupress.org/jcb/article/...
In @jhumimmunity.org, Grier et al. @childrensphila.bsky.social report that mutations in DNA helicase RECQL4 can cause immunodeficiency, including #SCID. The T cell defects are intrinsic to the hematopoietic system and amenable to hematopoietic stem cell transplant. rupress.org/jhi/article/...
Join us in congratulating @jhumimmunity.org EiC Jean-Laurent Casanova on his 2026 Nemmers Prize in Medical Science! @casanovalab.bsky.social discovered the genetic causes of more than 20 infections, incl. severe COVID pneumonia. From @feinberg.northwestern.edu π news.northwestern.edu/stories/2026...
In @jhumimmunity.org, Bes-Berlandier, Lanternier et al. describe the characteristics & clinical outcomes of chronic granulomatosis disease patients undergoing hematopoietic stem cell transplantation within 2 years after an invasive mold infection diagnosis rupress.org/jhi/article/...
In @jgp.org, Gaogao He, Lei Zhou et al. demonstrate that #ionchannels from #photoreceptors in the retina are very sensitive to photodynamic modification mediated by singlet oxygen, ΒΉO2, the molecular oxygen in electronically excited states. rupress.org/jgp/article/...
#Biophysics
π See a recent publication in JGP from Phan and Fitzsimons, "Modeling the effects of thin filament near-neighbor cooperative interactions in mammalian myocardium" π hubs.la/Q0445GF-0
βWe have chosen to submit our work to the Journal of General Physiology because we are confident that the review process will be fair.ββ Dr. Daniel Fitzsimons. Learn how scientists set the course at @jgp.org π hubs.la/Q0445GC_0
π See a recent publication in @jem.org from Silvia Monticelli's group, "FCRL3 is an immunoregulatory receptor that restrains the activation of human memory T lymphocytes": hubs.la/Q0420W4b0
βIn 20+ years of research, this was one of the most constructive editorial interactions Iβve had." β Dr. Silvia Monticelli. Discover how @jem.orgβs collaborative model puts your science first. π hubs.la/Q041Rzhg0
In @jem.org, Klepper et al. show that patients with #autoimmune #hepatitis have a unique autoantibody signature, incl. evidence for cross-reactivity with a common #herpesvirus & antibodies targeting the antifibrotic relaxin receptor with potential to promote #fibrosis rupress.org/jem/article/...
In many #IBD patients, motility disorders persist even during remission. In @jem.org, Kurapati et al show that postinflammatory GI motility dysfunction arises from structural remodeling of the enteric nervous system, driven by a combination of neuronal loss & neurogenesis rupress.org/jem/article/...
In @jhumimmunity.org, WΓ₯gstrΓΆm, NystrΓΆm et al. @liu.se report that poor pneumococcal antibody protection and low IgG2 levels predict the need for continuous immunoglobulin therapy in IgG subclass deficiency, highlighting the delayed benefit of Ig replacement therapy rupress.org/jhi/article/...
Read π "Cytoplasmic ribosomes on mitochondria alter the local membrane environment for protein import" from the Grotjahn lab: hubs.la/Q0442jjR0
βIβm grateful to be included in a journal with such a strong legacy in defining and advancing the field of cell biology.ββ Dr. Danielle Grotjahn (@nanigrotjahn.bsky.social). @jcb.org is where the world meets your research. Learn more. hubs.la/Q0442hKP0
Greenman et al. review the role of cMyBP-C post-translational modifications in health & disease. During cardiovascular disease, oxidative stress may drive the inverse relationship btwn. phosphorylation & S-glutathionylation of cMyBP-C, identifying new therapeutic targets rupress.org/jgp/article/...
New study @jem.org from the labs of Willinger, Lambrecht, Marichal and colleagues found that #cholesterol metabolites recognized by the receptor GPR183 attract #monocytes to repopulate depleted lung #macrophage niches. rupress.org/jem/article/...
#Metabolism #MucosalImmunology #InnateImmunity
@jhumimmunity.org's March issue is here! rupress.org/jhi/issue/2/2
In this issue, Zhou et al. (rupress.org/jhi/article/...) describe four patients with three new MCTS1 alleles. MCTS1 mutations are typically truncating and lead to complete or near-complete loss-of-function.
@jgp.org's March issue is here! rupress.org/jgp/issue/15...
Subthreshold current pulses delivered to pairs of electrically coupled MesV neurons with systematically varied inter-pulse delays reveal that electrical synapses enable coincidence detection. See Dapino & Curti rupress.org/jgp/article/...
@jem.org's March issue is here! rupress.org/jem/issue/22...
The cover depicts fluorescent immunohistochemistry staining of a human lung #TB granuloma: #macrophages (yellow), SPP1+ cells (green), macrophages enriched in alveolar spaces (red), & nuclei (blue). Mbano et al. rupress.org/jem/article/...
@jcb.org's March cover (rupress.org/jcb/issue/22...) is an immunofluorescence image of nurse cells in the #Drosophila ovary. #Actin cables (cyan) assembling at the nurse cell cortex co-align w/ acetylated #microtubules (magenta) as they grow toward the nuclei. Chou et al. rupress.org/jcb/article/...
In @jem.org, Ramphal, Waisman et al. @mainzuniversity.bsky.social reveal that NIK drives neuroantigen-specific T cell priming by regulating antigen presentation and IL-23 production, identifying NIK as a key orchestrator of #myeloid-driven CNS #autoimmunity. rupress.org/jem/article/...
In @jcb.org, Dziurdzik, Sridhar, Conibear et al. identify a conserved adaptor that recruits BLTP2-like proteins to ERβplasma membrane contacts by binding helical projections on their lipid transfer channel to maintain #lipid homeostasis. rupress.org/jcb/article/...
#MembraneContactSites
Sensory nerves respond differentially to inflammatory #cytokines, but it's unknown if this governs physiological responses via distinct central circuits. Hashimoto et al identify a circuit in which IL-1Ξ²βresponsive neurons control several components of the stress response rupress.org/jem/article/...
In @jcb.org, Indra, Troyanovsky et al. show that two Ξ΄-catenins, p120 and plakophilin-4, promote distinct #cadherin clustering modes, Ξ±-cateninβdependent and Ξ±-cateninβindependent, respectfully, thereby generating different types of adherens junctions. rupress.org/jcb/article/...
Explore the latest discoveries @jem.org in lymphatic biology, incl. studies on lymphatic vessels in the skin, skull, intestine & lung, novel imaging techniques, & the role of lymphatic vessels in various pathologies. New research to accompany the GRC #Lymphatics meeting: rupress.org/jem/collecti...
