Journal of Human Immunity
@jhumimmunity.org
Journal of Human Immunity (JHI) is the official open access journal of the International Alliance for Primary Immunodeficiency Societies (IAPIDS). Published by @rupress.org 🌐 jhumimmunity.org
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Journal of Human Immunity (JHI) @jhumimmunity.org is here! Read the inaugural editorial by @casanovalab.bsky.social outlining #JHI’s vision as the destination for groundbreaking research in human immunity and inborn errors of immunity. https://buff.ly/4hRGpOb
#OpenAccess
#OpenAccess
New work from Cook et al. of the Janet Markle lab @vanderbilt.edu and collaborators at Joe DiMaggio Children’s Hospital identifies a de novo PSTPIP1 mutation causing increased pyrin binding, enhanced pyrin inflammasome formation, and severe autoinflammatory disease. rupress.org/jhi/article/...
January 23, 2026 at 5:00 PM
New work from Cook et al. of the Janet Markle lab @vanderbilt.edu and collaborators at Joe DiMaggio Children’s Hospital identifies a de novo PSTPIP1 mutation causing increased pyrin binding, enhanced pyrin inflammasome formation, and severe autoinflammatory disease. rupress.org/jhi/article/...
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
#Autoimmunity #ComplementDisorders #InbornErrorsOfOmmunity
January 22, 2026 at 5:00 PM
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
#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
@clinimmsoc.bsky.social @esidsociety.bsky.social
#Autoimmunity
January 20, 2026 at 3:30 PM
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
@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
@esidsociety.bsky.social
#InbornErrorsOfImmunity #Lupus
January 19, 2026 at 3:45 PM
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
@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
#Autoimmunity #Infections
January 19, 2026 at 2:45 PM
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
#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
#SARSCoV2 #Diagnostics
January 15, 2026 at 2:15 PM
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
#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
#Autoinflammation #InbornErrorsOfImmunity
January 14, 2026 at 2:30 PM
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
#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/...
January 13, 2026 at 9:15 PM
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
#InbornErrorsOfImmunity #SevereImmunodeficiencies
January 13, 2026 at 8:15 PM
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
#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
#InbornErrorsOfImmunity
January 13, 2026 at 8:03 PM
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
#InbornErrorsOfImmunity
Good? A very long #COVID19. A new case report from Quentin Philippot and colleagues @upcite.bsky.social: rupress.org/jhi/article/...
#SARSCoV2
#SARSCoV2
January 13, 2026 at 7:30 PM
Good? A very long #COVID19. A new case report from Quentin Philippot and colleagues @upcite.bsky.social: rupress.org/jhi/article/...
#SARSCoV2
#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
#CVID
January 13, 2026 at 5:30 PM
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
#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/...
January 13, 2026 at 3:15 PM
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
#InnateImmunity
January 12, 2026 at 5:45 PM
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
#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/...
January 12, 2026 at 5:01 PM
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.👇 🧵
January 9, 2026 at 6:31 PM
🧬 📄 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!
👇 🧵
👇 🧵
January 9, 2026 at 6:00 PM
🧬 📄 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/...
January 8, 2026 at 5:00 PM
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
#Autoimmunity #InbornErrorsOfImmunity
January 7, 2026 at 4:00 PM
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
#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/...
January 6, 2026 at 6:01 PM
#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/...
January 6, 2026 at 3:45 PM
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
#InbornErrorsofImmunity
January 6, 2026 at 3:15 PM
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
#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
#InbornErrorsOfImmunity
January 6, 2026 at 2:45 PM
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
#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/...
January 6, 2026 at 2:30 PM
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...
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...
January 5, 2026 at 4:30 PM
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...
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...