Triaille, Chapdelaine et al @chumontreal.bsky.social report vasculitis & interstitial lung disease in two siblings with a novel C1QB pathogenic variant. Patients responded to rituximab + tacrolimus or baricitinib. rupress.org/jhi/article/... #Autoimmunity #ComplementDisorders #InbornErrorsOfOmmunity

IgA defects in #CVID lead to bacterial translocation, increased serum γ-interferon, and BAFF, say Hsi-en Ho, Charlotte Cunningham-Rundles (Icahn School of Medicine at Mount Sinai) and colleagues: rupress.org/jhi/article/... @clinimmsoc.bsky.social @esidsociety.bsky.social #Autoimmunity

Novel #TLR7 gain-of-function variant and review of the associated disease spectrum. New study from Maud Tusseau, Claire Desvignes, Anne-Laure Mathieu, Alexandre Belot et al. @ciri-lyon.bsky.social @inserm.fr: rupress.org/jhi/article/... @esidsociety.bsky.social #InbornErrorsOfImmunity #Lupus

Increased prevalence of #autoantibodies neutralizing IFNλ2/3 in young individuals with #CysticFibrosis. New report from Kevin Groen, Emanuela Bruscia, Marc Emmenegger, Benjamin Hale @benhale.bsky.social and colleagues: rupress.org/jhi/article/... #Autoimmunity #Infections

Shared TCR Vb21.3+ T cell immunological signature between MIS-A and MIS-C. New study from Liliane Khoryati, Guy Gorochov @sorbonne-universite.fr, Trine H. Mogensen @au.dk, Alexandre Belot @ciri-lyon.bsky.social @cnrs.fr @inserm.fr and colleagues: rupress.org/jhi/article/... #SARSCoV2 #Diagnostics

TLR7 F507S gain-of-function mutation presenting with early-onset #SLE and #hypertriglyceridemia: Response to JAK inhibition. New report from Nima Parvaneh, Vahid Ziaee and colleagues (Tehran University of Medical Sciences): rupress.org/jhi/article/... #Autoinflammation #InbornErrorsOfImmunity

Markers of immune dysregulation in pediatric patients with severe #bronchiolitis. New report from Katherine Hickey, Dusan Bogunovic @bogunoviclab.bsky.social and colleagues: rupress.org/jhi/article/...

Viral infection and brain #inflammation with seizures in PARK7 deficiency. New study from Jonas Lønskov, Annika Sünderhauf, Sisse Andersen, Trine H. Mogensen @au.dk and colleagues: rupress.org/jhi/article/... #InbornErrorsOfImmunity #SevereImmunodeficiencies

Immune dysregulation from a novel CTLA-4 haploinsufficiency variant. New study from Nina N. Brodsky, Saquib A. Lakhani and colleagues @yaleschoolofmed.bsky.social: rupress.org/jhi/article/... #InbornErrorsOfImmunity

Good? A very long #COVID19. A new case report from Quentin Philippot and colleagues @upcite.bsky.social: rupress.org/jhi/article/... #SARSCoV2

Ho, Cunningham-Rundles et al. show that bacterial transcytosis in common variable immune deficiency leads to the production of IFN-gamma and other inflammatory signals in subjects who develop the non-infectious complications found in this immune defect. rupress.org/jhi/article/... #CVID

In Memoriam: Richard A. Gatti, MD (1937–2025). Alessandro Aiuti and Luigi D. Notarangelo commemorate the passing of Dr. Richard Gatti, who was a visionary in #immunology and #genetics whose work reshaped the understanding and treatment of inherited immune diseases. rupress.org/jhi/article/...

New from Tusseau, Desvignes, Belot et al. @ciri-lyon.bsky.social: Novel TLR7 GOF variant (P435S) causing early onset #lupus with #neuroinflammation. Functional validation & review of all known #TLR7 GOF cases. A new dive into TLR7 mediated #autoimmunity. rupress.org/jhi/article/... #InnateImmunity

Groen, @benhale.bsky.social et al. @virology.uzh.ch identify interferon-λ #autoantibodies in 11.8% of those with #CysticFibrosis, a prevalence >10-fold higher than expected. In vitro & clinical analyses suggest the antibodies may impact mucosal pathology. rupress.org/jhi/article/...

🧬 📄 We extend our gratitude to our research community for making JHI's inaugural year a success! Let's look back at 2025's 5 most-read Research Letters.👇 🧵

🧬 📄 As we kick-start the second year at JHI, let us reflect on our inaugural year of excellent science. Here are our top 5 most-read Reviews, Editorials, and Perspectives in 2025! 👇 🧵

Khoryati et al. identify a T cell receptor Vβ21.3 signature in #SARSCoV2–related multisystem inflammatory syndrome in adults (MIS-A) similar to that previously reported in children (MIS-C), suggesting a shared immune-related mechanism between the two conditions. rupress.org/jhi/article/...

Parvaneh, Ziaee et al. present a patient harboring the TLR7 F507S mutation who initially presented with refractory #thrombocytopenia that evolved into #SLE with subtle neurologic features, accompanied by #hypertriglyceridemia. rupress.org/jhi/article/... #Autoimmunity #InbornErrorsOfImmunity

#InMemoriam Remembering Richard A. Gatti, MD, a pioneer of clinical immunology and hematopoietic stem cell transplantation, whose landmark contributions transformed the diagnosis and treatment of rare immune and DNA repair disorders. By Aiuti and Notarangelo: rupress.org/jhi/article/...

Children w/ #bronchiolitis exhibit a unique immunophenotype. Hickey, @bogunoviclab.bsky.social et al identify a significant difference in plasmacytoid #DendriticCells & #eosinophils in hospitalized patients, plus differences in cytokines involved in airway #inflammation rupress.org/jhi/article/...

Lønskov, Sünderhauf, Andersen, Mogensen et al. describe a child homozygous for a deleterious variant in PARK7/DJ-1 presenting with #RSV infection, brain #inflammation, and seizures and explore the pathophysiology of PARK7 deficiency. rupress.org/jhi/article/... #InbornErrorsofImmunity

Brodsky, Lakhani et al. @yaleschoolofmed.bsky.social describe immune dysregulation from a novel C-terminal cytoplasmic CTLA-4 haploinsufficiency variant. rupress.org/jhi/article/... #InbornErrorsOfImmunity

Philippot et al. report a case of chronic pulmonary #SARSCoV2 infection caused by impaired B cell–mediated immunity to SARS-CoV-2 in a patient with Good syndrome. Immunoglobulin replacement therapy alone was sufficient to achieve clinical and radiological resolution. rupress.org/jhi/article/...

JHI’s January Issue is here! rupress.org/jhi/issue/2/1 The cover image shows DNA methylation alterations in B cells in ICF syndrome and other primary #immunodeficiencies. From Martins-Ferreira and @eballestar.bsky.social: doi.org/10.70962/jhi...

One of the most read articles this year in the Journal of Human Immunity @jhumimmunity.org is the 30-year ESID Registry study analysing data of 30,628 patients. If you missed it earlier this year, get back to the paper today on ➡️ bit.ly/3MQtIZA

As 2025 wraps up, we're proud to celebrate the inaugural year of the Journal of Human Immunity (JHI)! 🎉 Here are our 5 most-read articles so far 👇🧬

Mendelian susceptibility to mycobacterial disease: Clinical, immunological, and genetic study in India. New study from Aparna Dalvi, Manisha Madkaikar (Indian Council of Medical Research National Institute of Immunohaematology) and colleagues: rupress.org/jhi/article/... #Infections #Autoantibodies

Neurodevelopmental outcomes following hematopoietic cell transplantation for patients with severe combined immunodeficiency: A PIDTC study. From Virdette L. Brumm @ucsfchildrens.bsky.social, Ami J. Shah @stanfordmedicine.bsky.social and colleagues: rupress.org/jhi/article/... #SCID

#HowITreat: Infections and #InbornErrorsOfImmunity—Prevention, diagnosis, and treatment. New practical advice from Alexandra Freeman @niaidnews.bsky.social, Beth Thielen @thie0149.bsky.social, and Tamara Pozos @childrensminnesota.bsky.social: rupress.org/jhi/article/... @clinimmsoc.bsky.social

🔔 We're pleased to share the abstracts from the Latin American Society for Immunodeficiencies Meeting 2025 @lasidofficial.bsky.social, which took place October 15–18, in Buenos Aires. Explore the latest advancements and insights in immunodeficiencies 👉 rupress.org/jhi/issue/1/...

I can’t think of a better inaugural “How I Treat” for this new @jhumimmunity.org series - expert guidance from Alexandra Freeman, Beth Thielen, and Tamara Pozos on a topic relevant for all clinical immunologists - prevention and treatment of infection #inbornerrorsofimmunity @clinimmsoc.bsky.social

Extended clinical phenotypes and long-term outcomes of phosphoglucomutase-3 deficiency. New research letter from Chen Wang, Alexandra Freeman and colleagues @niaidnews.bsky.social: rupress.org/jhi/article/... #Autoimmunity #Atopy #ClinicalPhenotypes #InbornErrorsOfImmunity @clinimmsoc.bsky.social

Brumm, Shah et al. evaluated 69 subjects with #SCID to assess the neurodevelopmental outcomes following HCT. Compared with the normative population, our subjects performed in the average range. There was no impact of newborn screening, conditioning, or genotype. rupress.org/jhi/article/...

Dalvi, Madkaikar et al. describe 50 Indian patients w/ Mendelian susceptibility to #mycobacterial disease, highlighting its clinical diversity & genetic heterogeneity. Immunological assays, flow cytometry & genetic testing aid diagnosis & targeted clinical management rupress.org/jhi/article/...

Clinical experience with #emapalumab treatment in a group of children with primary hemophagocytic lymphohistiocytosis. A new study from Yulia Rodina et al.: rupress.org/jhi/article/... #Therapeutics #Hemophagocytosis

A new series in @jhumimmunity.org: How I Treat: Infections and inborn errors of immunity—Prevention, diagnosis, and treatment url: rupress.org/jhi/article/...

Freeman, Thielen @thie0149.bsky.social and Pozos provide practical advice on prevention, diagnosis, and management of infections in #InbornErrorsOfImmunity as well as management of common complications such as bronchiectasis. rupress.org/jhi/article/... #HowITreat @clinimmsoc.bsky.social

In new report, Wang, Freeman et al. summarize the clinical phenotypes, immunologic findings, treatment, and outcomes of 10 patients with Phosphoglucomutase-3 (PGM3) deficiency rupress.org/jhi/article/... @clinimmsoc.bsky.social

ICF syndrome: An epigenetic paradigm of primary immunodeficiencies. New review from Ricardo Martins-Ferreira and Esteban Ballestar @eballestar.bsky.social @carrerasijc.bsky.social: rupress.org/jhi/article/... #InbornErrorsOfImmunity #SevereImmunodeficiencies #BcellDeficiencies #SystemsImmunology

Yulia Rodina et al. explore the use of #emapalumab, an interferon gamma inhibitor, in seven children with primary hemophagocytic lymphohistiocytosis. rupress.org/jhi/article/... #Therapeutics #hemophagocytosis

Recurrent severe viral infection in a child with inherited complete TBK1 deficiency. New study from Sara Sebnem Kilic (Bursa Uludag University), Shuxiang Zhao (@rockefeller.edu) and colleagues: rupress.org/jhi/article/... @casanovalab.bsky.social @clinimmsoc.bsky.social #InbornErrorsOfImmunity

Martins-Ferreira and @eballestar.bsky.social @carrerasijc.bsky.social review how ICF syndrome serves as a paradigm of epigenetic #immunodeficiency. They show how alterations in DNA methylation and chromatin remodeling disrupt genome stability and B cell maturation. rupress.org/jhi/article/...

Kilic, Zhao et al. report a child w/ a homozygous TBK1 mutation previously linked to #autoinflammation, suggesting its role in recurrent severe viral infections; the patient died from acute disseminated #encephalomyelitis. rupress.org/jhi/article/... @casanovalab.bsky.social @clinimmsoc.bsky.social

Novel genotypes, phenotypes, and triggers in humans with OTULIN haploinsufficiency rupress.org/jhi/article/... #hvhebron #imm [Text complet] @jhumimmunity.org

Human inborn errors of the alternative NF-κB pathway. New review from Tom Le Voyer, Jean-Laurent Casanova @casanovalab.bsky.social, and Anne Puel @anne-puel.bsky.social: rupress.org/jhi/article/... #InbornErrorsOfImmunity

Automated data extraction model for the USIDNET registry: Bigger, faster, and better data collection. New study from Vaibhavi Vichare @childrensphila.bsky.social, Kathleen Sullivan ( Icahn School of Medicine at Mount Sinai) and colleagues: rupress.org/jhi/article/... @clinimmsoc.bsky.social

🔔 JHI is delighted to share the abstracts from the 2025 Conference of the Australasian Society of Clinical Immunology and Allergy (#ASCIA). Explore the latest advancements in clinical grand rounds and inborn errors of immunity 👉 rupress.org/jhi/issue/1/...

Genotypes truncating the intracellular tail of human pre-TCR⍺: From amorphic to isomorphic. New report from Marie Materna, Vivien Béziat @vbeziat.bsky.social and colleagues: rupress.org/jhi/article/... @hopitalnecker.bsky.social @institutimagine.bsky.social #TcellDeficiencies

Novel de novo dominant PSMB10 variants in three patients with immune deficiency and liver disease. New study from Benjamin Fournier @hopitalnecker.bsky.social, Léa Poirier, Jean-Pierre de Villartay, Frédéric Ebstein @univ-nantes.fr and colleagues: rupress.org/jhi/article/... #InbornErrorsOfImmunity

Leniolisib reduced lymphoproliferative disease in murine autoimmune lymphoproliferative syndrome. New study from Chopie Hassan, Kevin S. Thorneloe (Pharming Group) and colleagues: rupress.org/jhi/article/... #InbornErrorsOfImmunity