Dick Gatti was a giant, who will be sorely missed: In Memoriam: Richard A. Gatti, MD (1937–2025) url: rupress.org/jhi/article/...

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 👇🧬

Viral infection and brain inflammation with seizures in PARK7 deficiency url: rupress.org/jhi/article/...

Markers of immune dysregulation in pediatric patients with severe bronchiolitis url: rupress.org/jhi/article/...

Immune dysregulation from a novel CTLA-4 haploinsufficiency variant url: rupress.org/jhi/article/...

Good? A very long COVID-19 url: rupress.org/jhi/article/...

1/ We’re seeking Sponsors for the 3rd International Symposium on Inborn Errors of Immunity (IEI), and their phenocopies, to be held in Lofoten, Norway, in June 2027. www.hgid.org/collaborativ...

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

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

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

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

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

Qian Zhang et al. @casanovalab.bsky.social report a fatal case of avian influenza #H5N1 infection and describe that the presence of AAN-I-IFN may facilitate infection, replication, and adaptation of zoonotic IAVs to humans and, therefore, human-to-human transmission. rupress.org/jem/article/...

New study from Gervais, Cobat, @casanovalab.bsky.social, Jouanguy @hopitalnecker.bsky.social and colleagues highlights auto-Abs against type I IFNs as a major determinant of HSV-FVH and paves the way for targeted preventive or therapeutic interventions. rupress.org/jem/article/... #Autoimmunity

Does fever drive the #evolution of antiviral genes? A new Perspective by Ryan Langlois @langloislab.bsky.social: rupress.org/jem/article/... #InfectiousDisease #HostDefense #Virology

@jhumimmunity.org: Dalvi 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/...

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/...

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/...

Nice to see our study led by Kevin Groen included in the 2025 ‘Best of JEM’. We dissected the mechanisms by which pathogenic autoantibodies block IFN-I function and used the information to design decoy molecules that might form the basis for future therapies. rupress.org/jem/article/...

Mendelian susceptibility to mycobacterial disease: Clinical, immunological, and genetic study in India url: rupress.org/jhi/article/...

Neurodevelopmental outcomes following hematopoietic cell transplantation for patients with severe combined immunodeficiency (SCID): A PIDTC study 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

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

V2P (variant-to-phenotype) is live: nature.com/articles/s41... To our knowledge, first genomewide SNVs+indels model jointly predicting pathogenicity + disease domain (23 HPO groups; e.g. cardiac/immune/metabolic). Great work by David Stein in collaboration with @schlessingerlab.bsky.social

Natural history of PGM3 deficiency in 10 patients: Extended clinical phenotypes and long-term outcomes of phosphoglucomutase-3 deficiency url: rupress.org/jhi/article/...

Autoantibodies neutralizing type I IFNs in patients with fulminant herpes simplex virus hepatitis. New study from Adrian Gervais, Aurélie Cobat, Jean-Laurent Casanova (@casanovalab.bsky.social), Emmanuelle Jouanguy @hopitalnecker.bsky.social and colleagues: rupress.org/jem/article/... #Autoimmunity

Autoantibodies neutralizing type I IFNs in a fatal case of #H5N1 avian #influenza. New study from Qian Zhang, Jean-Laurent Casanova @casanovalab.bsky.social @rockefeller.edu and colleagues: rupress.org/jem/article/... #InfectiousDisease #HostDefense #SARSCoV2

A wonderful memory shared by Shohei Hori on a Japanese TV special about S. Sakaguchi & Tregs: the 1999 Arrabida meeting on dominant tolerance organized by Antonio Coutinho, back when Tregs were not yet mainstream. The full documentary (30mns) is available in English👇 www3.nhk.or.jp/nhkworld/en/...

Clinical experience with emapalumab treatment in a group of children with primary hemophagocytic lymphohistiocytosis url: rupress.org/jhi/article/...

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

A fatal case of avian influenza H5N1 infection caused by autoantibodies neutralizing type I IFNs that are common in older individuals @jem.org @casanovalab.bsky.social @rockefeller.edu rupress.org/jem/article/...

1/ We are excited to share our new report in @jem.org showing that almost 40% cases of herpesvirus (HSV)-triggered fulminant viral hepatitis (FVH) are due to pre-existing autoantibodies neutralizing type I IFN (autoAbs-IFN) (doi.org/10.1084/jem....).

LSU Health Shreveport reported a fatal H5N1 case in a 71-year-old man whose blood carried autoantibodies that blocked type I interferons. These antibodies likely disabled his early antiviral defenses and may raise the risk of human transmission. rupress.org/jem/article/...

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

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

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

🔔 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/...

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

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/...

Another thread here 👇 on "the canniness of antibodies". This is about an immunodeficiency that causes auto-antibodies against interferons (IFNs, these are proteins 'messengers' that allow the body to fight viral infections, also used for therapeutic purposes) bsky.app/profile/did:...

Qian Zhang et al. @casanovalab.bsky.social @rockefeller.edu report a fatal case of avian #influenza #H5N1 infection caused by autoantibodies neutralizing type I IFNs. These rogue autoantibodies are common, especially in elderly people. rupress.org/jem/article/... (1/2) 🧵 👇

In @jem.org, Qian Zhang et al. @casanovalab.bsky.social @rockefeller.edu report a fatal case of avian #influenza #H5N1 infection caused by autoantibodies neutralizing type I IFNs. These rogue autoantibodies are common, especially in elderly people. rupress.org/jem/article/... (1/2) 🧵 👇

1/ A year ago, a 71-year-old Louisiana man died from H5N1, marking the first avian flu death in the US. Now we report in @jem.org that the cause of his death is rogue autoantibodies neutralizing type I IFN (AutoAb-IFN). doi.org/10.1084/jem....

Monumental Review of the most complicated inborn error of immunity, a genetic defect of epigenetics: ICF syndrome: An epigenetic paradigm for primary immunodeficiencies url: rupress.org/jhi/article/...

In @jhumimmunity.org, 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

A patient with recessive TBK1 deficiency and lethal viral disease: Recurrent severe viral infection in a child with inherited complete TBK1 deficiency url: 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

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

USIDNET is an important effort and resource that will enable us to better identify clinical features of inborn errors of immunity and the complications and treatment approaches that are important for us to care for patients. Congratulations to the team at CHOP leading this!

New review from Voyer, @casanovalab.bsky.social, & @anne-puel.bsky.social synthesizes human inborn errors of the alternative NF-κB pathway, highlighting their shared and distinct effects on lymphoid development, immune dysregulation, and mTEC-mediated tolerance rupress.org/jhi/article/...