Tomomasa, Nishimura, Kanegane et al. investigated #tumorigenesis mechanisms through transcriptomic profiling and somatic variant analysis in tumor samples from six patients with X-linked lymphoproliferative syndrome type 1 (XLP1). rupress.org/jhi/article/... #InbornErrorsOfImmunity

Hematopoietic stem cell transplantation following invasive mold infection in chronic granulomatous disease: insights from a case series and literature review. New study from Hugo Bes-Berlandier, Fanny Lanternier @hopitalnecker.bsky.social and colleagues: rupress.org/jhi/article/... #CGD #HSCT

Rare variants in CYBB (encoding gp91phox) are responsible for chronic granulomatous disease. Roelens, Bustamante et al. @hopitalnecker.bsky.social report a patient affected by multiple cerebral abscesses caused by #Acanthamoeba sp. and complete gp91phox deficiency. rupress.org/jhi/article/... #CGD

Oncostatin M receptor deficiency as a novel candidate genetic cause of autosomal recessive hyper-IgE syndrome. New study from Sisse Andersen, Kristian Assing, Trine H. Mogensen and colleagues @au.dk: rupress.org/jhi/article/... #InbornErrorsOfImmunity #immunodeficiencies #InfectiousDiseases

Low levels of IgG2 and pneumococcal antibodies as predictors of benefit from IgG replacement in IgG subclass deficiency. New study from Per Wågström, Sofia Nyström and colleagues @liu.se: rupress.org/jhi/article/...

Tough diagnoses being made with artificial thymic organoids at CHOP! @chopresearch.bsky.social

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/... @romberglab.bsky.social

Join us in congratulating our EiC Jean-Laurent Casanova on his 2026 Nemmers Prize in Medical Science! @casanovalab.bsky.social discovered the genetic causes of more than 20 infections, including severe COVID pneumonia. From @feinberg.northwestern.edu 👉 news.northwestern.edu/stories/2026...

Today, @jhumimmunity.org published its 100th paper, in only one year !! 😊

Bes-Berlandier, Lanternier et al @hopitalnecker.bsky.social 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/... #CGD #HSCT

🎥 JHI’s Editor-in-Chief Jean-Laurent Casanova shares the vision behind JHI and what sets the journal apart in the rapidly evolving field of human immunity. Watch the full video and learn more about publishing in JHI here 👉 rupress.org/jhi/pages/pu...

Human ISG15 deficiency unveils impaired healing of ulcerations via type I interferon–mediated fibrosis. New study from Christos Sazeides, Dusan Bogunovic @bogunoviclab.bsky.social and colleagues @columbiauniversity.bsky.social: rupress.org/jhi/article/... #InbornErrorsOfImmunity

TLR7 mutations leading to enhanced TLR7 signaling in humans. Crow @uoe-igc.bsky.social and Gantier discuss three recent studies in JHI (doi.org/10.70962/jhi..., doi.org/10.70962/jhi..., and doi.org/10.70962/jhi...) in News & Views: rupress.org/jhi/article/...

Identification of a novel TLR7 gain-of-function variant that underlies systemic lupus erythematosus. New study from Aiswarya Sethumadhavan, Charles Mariasoosai, Natsuko Yamakawa, Hedieh Torabifard @utdallas.bsky.social, Eric Meffre @stanfordmedicine.bsky.social et al.: rupress.org/jhi/article/...

Andersen, Assing, Mogensen et al. @au.dk describe a patient with #asthma, pulmonary #aspergillosis, and elevated IgE homozygous for a deleterious variant in the oncostatin M receptor. rupress.org/jhi/article/... #InbornErrorsOfImmunity #immunodeficiencies #InfectiousDiseases #PopulationGenetics

Wågström, Nyström 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/...

Our 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.

🎥 JHI’s Editor-in-Chief Jean-Laurent Casanova shares the vision behind JHI and what sets the journal apart in the rapidly evolving field of human immunity. Watch the full video and learn more about publishing in JHI here 👉 rupress.org/jhi/pages/pu...

Novel molecular assays for monitoring T cell function after HSCT in two siblings with variants in DCLRE1C. New study from Anna Lyytikäinen, Pegah Johansson and colleagues (Sahlgrenska University Hospital): rupress.org/jhi/article/... #SCID #CellDivisionAssay #FlowCytometry #DNARepair #DSB #NHEJ

Quality of life of X-linked agammaglobulinemia patients in the United Kingdom. New study from Ben Shillitoe @sheffieldchildrens.bsky.social and colleagues: rupress.org/jhi/article-... #ClinicalPhenotypes #ImmunologicalPhenotypes #InbornErrorsOfImmunity

Three recent studies in JHI (doi.org/10.70962/jhi..., doi.org/10.70962/jhi..., and doi.org/10.70962/jhi...) extend our understanding of the genetic, molecular, and clinical characteristics of human disease associated with a gain of TLR7-mediated signaling. rupress.org/jhi/article/...

Sazeides et al. @bogunoviclab.bsky.social show that human ISG15 deficiency is a monogenic syndrome that poises individuals to a proapoptotic and profibrotic state that can lead to lung and skin damage with scarring and impaired function via chronic inflammation. rupress.org/jhi/article/...

Sethumadhavan, Mariasoosai, Yamakawa, Torabifard, Meffre et al. report a novel TLR7 gain-of-function (GOF) variant associated with autoimmunity in a male patient, which further highlights TLR7's essential role in SLE pathogenesis. rupress.org/jhi/article/...

The early history of the ESID Registry. In this Letter to the Editor, Roberto Paganelli (UniCamillus) describes the history of the @esidsociety.bsky.social registry, with the help of original documents of the precursor EGID going back to 1994. rupress.org/jhi/article/... #InbornErrorsOfImmunity

This is the first News & Views of @jhumimmunity.org and it is a must-read ! TLR7 mutations leading to enhanced TLR7 signaling in humans url: rupress.org/jhi/article/...

Another TLR7 GOF: Identification of a novel TLR7 gain-of-function variant that underlies systemic lupus erythematosus url: rupress.org/jhi/article/...

Hematopoietic stem cell transplant with a carrier donor rescues CD40L deficiency. New case report from Christen L. Ebens @umnpeds.bsky.social, Amir A. Sadighi Akha @mayoclinic.org and colleagues: rupress.org/jhi/article/... #InbornErrorsOfImmunity #Therapeutics #HSCT

Inborn errors of immunity at school: How can we do better? New study from Laura Lopez-Seguer, Jacques G. Riviere, Pere Soler-Palacin and colleagues @vallhebron.com: rupress.org/jhi/article/... #InbornErrorsOfImmunity #IEI #immunodeficiencies #RareDisease #Peds #Education @esidsociety.bsky.social

Lyytikäinen, Johansson et al. report two novel assays to characterize T cell function in two patients with DCLRE1C variants diagnosed with leaky severe combined immunodeficiencies (#SCID). rupress.org/jhi/article/... #SCID #PrimaryImmunodeficiency #InbornErrorsOfImmunity #HSCT #ClinicalImmunology

Lymphoproliferation in #InbornErrorsOfImmunity: From challenging diagnosis to histologic revision. New study from Mattia Moratti, Caterina Cancrini @unibo.it and colleagues: rupress.org/jhi/article-... @esidsociety.bsky.social

Expanding the scope of human immunology in the Journal of Human Immunity. New Editorial from Petter Brodin @petterbrodin.bsky.social, Megan Cooper @macattacklab.bsky.social, Jean-Laurent Casanova @casanovalab.bsky.social, and colleagues in the JHI Editorial team:

An assessment of UK XLA patients by Shillitoe et al. reveals that bronchiectasis, present in the majority of adults, is strongly associated with diminished quality of life.

Letter to the Editor: Following on from the recent paper by Kindle et al. (rupress.org/jhi/article/...), Roberto Paganelli describes the history of the ESID (@esidsociety.bsky.social) registry, with the help of original documents of the precursor EGID going back to 1994. rupress.org/jhi/article/...

Ebens, Akha et al. demonstrate successful allogeneic #HSCT of CD40L deficiency using an asymptomatic carrier mother donor, with achievement of 32% CD40L expression, recovery of thymopoiesis, normal T cell diversity and functional outcomes of T and B cell interactions. rupress.org/jhi/article/...

Adolescents with #InbornErrorsOfImmunity face school hurdles. Lopez-Seguer, Riviere, Soler-Palacin et al. @vallhebron.com call for co-developed, teacher-facing protocols with authorities and patient groups. rupress.org/jhi/article/... #IEI #RareDisease #Peds #Education @esidsociety.bsky.social

Human TBK1 deficiency: An expanded spectrum from #autoinflammation to viral #encephalitis. New report from Yemsratch Akalu, Dusan Bogunovic @bogunoviclab.bsky.social @columbiamed.bsky.social and colleagues: rupress.org/jhi/article/... #InbornErrorsOfImmunity @clinimmsoc.bsky.social

🎥 JHI’s Editor-in-Chief Jean-Laurent Casanova (@casanovalab.bsky.social) shares the vision behind JHI and what sets the journal apart in the rapidly evolving field of human immunity. Watch the full video and learn more about publishing in JHI here 👉 rupress.org/jhi/pages/pu...

Moratti et al. exemplify how an effective management of IEI-related LPD demands close collaboration among immunologists, hematologists, & pathologists—integrating clinical presentation with serology, histology, immunohistochemistry, clonality assays, EBV status & genetics rupress.org/jhi/article-...

Expanding the scope of human immunology in the JHI. In this Editorial, @petterbrodin.bsky.social, @macattacklab.bsky.social, @casanovalab.bsky.social, alongside JHI's Associate, Consulting, as well as Society Editors, outline a broader scope for the journal. rupress.org/jhi/article/...

Beyond survival: Multisystem long-term outcomes following #HSCT in chronic granulomatous disease. New study from Valentina Guarnieri, Reem Elfeky and colleagues @greatormondst.bsky.social: rupress.org/jhi/article/... #InbornErrorsOfImmunity #immunodeficiencies #CGD @esidsociety.bsky.social

Managing non-SCID T cell lymphopenia after TREC-based #NewbornScreening. New study from Annelotte J. Duintjer, Maartje Blom @unileiden.bsky.social and colleagues: rupress.org/jhi/article/... #TCellDeficiencies #Diagnostics; #SevereImmunodeficiencies #SCID @esidsociety.bsky.social

🎥 JHI’s Editor-in-Chief Jean-Laurent Casanova (@casanovalab.bsky.social) shares the vision behind JHI and what sets the journal apart in the rapidly evolving field of human immunity. Watch the full video and learn more about publishing in JHI here 👉 rupress.org/jhi/pages/pu...

Acute necrotizing encephalopathy associated with #COVID19 in a pediatric patient and a systematic review. New study from Kanako Takeuchi, Satoshi Okada and colleagues (Hiroshima University): rupress.org/jhi/article/... #InfectiousDiseases #PopulationGenetics #SarsCoV2

Akalu et al. @bogunoviclab.bsky.social @columbiamed.bsky.social report new and long-term follow-up cases of human #TBK1 deficiency, revealing that, beyond systemic #autoinflammation, affected individuals are also vulnerable to severe viral #encephalitis. rupress.org/jhi/article/...

Guarnieri, Elfeky et al. @greatormondst.bsky.social report long-term outcomes after #HSCT in children with chronic granulomatous disease. While survival is excellent, a wide range of autoimmune and organ-specific late effects emerge. rupress.org/jhi/article/... #CGD #InbornErrorsOfImmunity

#Autoantibodies neutralizing type 1 #interferons in two cohorts of people with #HIV. New study from Julie A. Jensen, Jean-Laurent Casanova @casanovalab.bsky.social, Trine H. Mogensen @au.dk and colleagues: rupress.org/jhi/article/... @esidsociety.bsky.social

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/...

Here is another terrific paper in @jhumimmunity.org: Managing non-SCID T cell lymphopenia after TREC-based newborn screening url: rupress.org/jhi/article/...

Duintjer, Blom et al. @unileiden.bsky.social present clinical follow-up data of 6.5 years of #NewbornScreening for #SCID, underscoring the importance of preventing overtreatment and avoiding unnecessary prolonged follow-up. rupress.org/jhi/article/... #Diagnostics #Immunodeficiencies

🎥 JHI’s Editor-in-Chief Jean-Laurent Casanova shares the vision behind JHI and what sets the journal apart in the rapidly evolving field of human immunity. Watch the full video and learn more about publishing in JHI here 👉 rupress.org/jhi/pages/pu...