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 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...
Reposted by Journal of Human Immunity
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
#3 30-year @esidsociety.bsky.social registry analysis of 30,628 patients' longitudinal datasets show results of robust epidemiological studies on natural courses including diagnosis, treatment, and survival, supporting newborn screening and future AI applications in IEI: rupress.org/jhi/article/...
Inborn errors of immunity: Manifestation, treatment, and outcome—an ESID registry 1994–2024 report on 30,628 patients | Journal of Human Immunity | Rockefeller University Press
Worldwide, most patient registries for IEI are national, with limited geographical/temporal scope. This 30-year ESID registry analysis of 30,628 patients’
rupress.org
December 30, 2025 at 8:59 AM
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 👇🧬
December 29, 2025 at 3:46 PM
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
#Infections #Autoantibodies
December 25, 2025 at 2:30 PM
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
#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
#SCID
December 24, 2025 at 7:30 PM
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
#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
@clinimmsoc.bsky.social
December 23, 2025 at 4:30 PM
#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
@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/...
December 23, 2025 at 3:15 PM
🔔 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/...
Reposted by Journal of Human Immunity
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
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
#HowITreat
@clinimmsoc.bsky.social
December 21, 2025 at 4:43 PM
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
#Autoimmunity #Atopy #ClinicalPhenotypes #InbornErrorsOfImmunity
@clinimmsoc.bsky.social
Extended clinical phenotypes and long-term outcomes of phosphoglucomutase-3 deficiency | Journal of Human Immunity | Rockefeller University Press
PGM3 deficiency is a multisystem disorder characterized by recurrent infections, chronic severe neutropenia, and virus-associated malignancies, often leadi
rupress.org
December 19, 2025 at 2:45 PM
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
#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/...
December 18, 2025 at 5:02 PM
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/...
December 18, 2025 at 5:01 PM
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
#Therapeutics #Hemophagocytosis
December 18, 2025 at 2:52 PM
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
#Therapeutics #Hemophagocytosis
Reposted by Journal of Human Immunity
A new series in @jhumimmunity.org:
How I Treat: Infections and inborn errors of immunity—Prevention, diagnosis, and treatment url: rupress.org/jhi/article/...
How I Treat: Infections and inborn errors of immunity—Prevention, diagnosis, and treatment url: rupress.org/jhi/article/...
How I Treat: Infections and inborn errors of immunity—Prevention, diagnosis, and treatment | Journal of Human Immunity | Rockefeller University Press
Freeman et al. provide practical advice on prevention, diagnosis, and management of infections in inborn errors of immunity as well as management of common
rupress.org
December 16, 2025 at 3:29 PM
A new series in @jhumimmunity.org:
How I Treat: Infections and inborn errors of immunity—Prevention, diagnosis, and treatment url: rupress.org/jhi/article/...
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
#HowITreat
@clinimmsoc.bsky.social
December 16, 2025 at 7:58 PM
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
#HowITreat
@clinimmsoc.bsky.social