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
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
@clinimmsoc.bsky.social
November 26, 2025 at 7:45 PM
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
@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/...
November 26, 2025 at 7:45 PM
🔔 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
@hopitalnecker.bsky.social @institutimagine.bsky.social
#TcellDeficiencies
November 26, 2025 at 2:45 PM
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
@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
#InbornErrorsOfImmunity
November 25, 2025 at 2:45 PM
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
#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
#InbornErrorsOfImmunity
November 24, 2025 at 3:15 PM
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
#InbornErrorsOfImmunity
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/...
November 21, 2025 at 5:00 PM
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/...
Vichare, Sullivan et al. assessed the United States Immunodeficiency Network (USIDNET), a suite of resources for clinical immunologists. The registry of patient data utilizes data extraction from electronic health records to minimize burden on participating sites. rupress.org/jhi/article/...
November 19, 2025 at 5:45 PM
Vichare, Sullivan et al. assessed the United States Immunodeficiency Network (USIDNET), a suite of resources for clinical immunologists. The registry of patient data utilizes data extraction from electronic health records to minimize burden on participating sites. rupress.org/jhi/article/...
In a new research letter, Materna, @vbeziat.bsky.social et al. identified six individuals with homozygous truncating variants in the pre-TCRα intracellular tail, revealing hypomorphic and neutral alleles. rupress.org/jhi/article/...
@casanovalab.bsky.social
@esidsociety.bsky.social
@casanovalab.bsky.social
@esidsociety.bsky.social
November 19, 2025 at 5:01 PM
In a new research letter, Materna, @vbeziat.bsky.social et al. identified six individuals with homozygous truncating variants in the pre-TCRα intracellular tail, revealing hypomorphic and neutral alleles. rupress.org/jhi/article/...
@casanovalab.bsky.social
@esidsociety.bsky.social
@casanovalab.bsky.social
@esidsociety.bsky.social
Fournier @hopitalnecker.bsky.social, Poirier, Ebstein et al. report that novel dominant PSMB10 variants cause severe combined immunodeficiency and life-threatening liver disease in three pediatric patients. rupress.org/jhi/article/...
#InbornErrorsOfImmunity #SevereImmunodeficiencies
#InbornErrorsOfImmunity #SevereImmunodeficiencies
November 18, 2025 at 5:01 PM
Fournier @hopitalnecker.bsky.social, Poirier, Ebstein et al. report that novel dominant PSMB10 variants cause severe combined immunodeficiency and life-threatening liver disease in three pediatric patients. rupress.org/jhi/article/...
#InbornErrorsOfImmunity #SevereImmunodeficiencies
#InbornErrorsOfImmunity #SevereImmunodeficiencies
IRF4 haploinsufficiency in a multiplex family with Whipple's disease. New report from Sinem Ünal, Stéphanie Dublanc, Jacinta Bustamante, Jérémie Rosain (@jrosain.bsky.social) and colleagues @hopitalnecker.bsky.social: rupress.org/jhi/article/...
#InbornErrorsOfImmunity
#InbornErrorsOfImmunity
November 18, 2025 at 2:45 PM
IRF4 haploinsufficiency in a multiplex family with Whipple's disease. New report from Sinem Ünal, Stéphanie Dublanc, Jacinta Bustamante, Jérémie Rosain (@jrosain.bsky.social) and colleagues @hopitalnecker.bsky.social: rupress.org/jhi/article/...
#InbornErrorsOfImmunity
#InbornErrorsOfImmunity
New study from Hassan et al. examines the efficacy of leniolisib, a selective PI3Kδ inhibitor, in a murine model of ALPS, illustrating a reduction in lymphoproliferation and disease-associated biomarkers such as elevated double-negative T cells. rupress.org/jhi/article/...
#InbornErrorsOfImmunity
#InbornErrorsOfImmunity
November 17, 2025 at 5:00 PM
New study from Hassan et al. examines the efficacy of leniolisib, a selective PI3Kδ inhibitor, in a murine model of ALPS, illustrating a reduction in lymphoproliferation and disease-associated biomarkers such as elevated double-negative T cells. rupress.org/jhi/article/...
#InbornErrorsOfImmunity
#InbornErrorsOfImmunity
Ünal, Dublanc, Bustamante, @jrosain.bsky.social et al. @hopitalnecker.bsky.social report two patients with Whipple’s disease caused by autosomal dominant IRF4 deficiency. rupress.org/jhi/article/...
@esidsociety.bsky.social
#InbornErrorsOfImmunity
@esidsociety.bsky.social
#InbornErrorsOfImmunity
November 11, 2025 at 5:02 PM
Ünal, Dublanc, Bustamante, @jrosain.bsky.social et al. @hopitalnecker.bsky.social report two patients with Whipple’s disease caused by autosomal dominant IRF4 deficiency. rupress.org/jhi/article/...
@esidsociety.bsky.social
#InbornErrorsOfImmunity
@esidsociety.bsky.social
#InbornErrorsOfImmunity
ORAI1 mutation with mixed loss- and gain-of-function properties causes #immunodeficiency and HLH, say Lucile Noyer (@Lucilenoyer.bsky.social) , Stefan Feske (@stefanfeske.bsky.social) and colleagues (NYU Grossman School of Medicine): rupress.org/jhi/article/...
#InbornErrorsOfImmunity
#InbornErrorsOfImmunity
November 6, 2025 at 7:45 PM
ORAI1 mutation with mixed loss- and gain-of-function properties causes #immunodeficiency and HLH, say Lucile Noyer (@Lucilenoyer.bsky.social) , Stefan Feske (@stefanfeske.bsky.social) and colleagues (NYU Grossman School of Medicine): rupress.org/jhi/article/...
#InbornErrorsOfImmunity
#InbornErrorsOfImmunity
The systemic effects of 22q11.2 deletion syndrome on immunity. New review from Nicolai van Oers (UT Southwestern) and Kathleen Sullivan (@childrensphila.bsky.social): rupress.org/jhi/article/...
@clinimmsoc.bsky.social
#InbornErrorsOfImmunity #ImmunologicalPhenotypes #TCellDeficiencies
@clinimmsoc.bsky.social
#InbornErrorsOfImmunity #ImmunologicalPhenotypes #TCellDeficiencies
November 6, 2025 at 3:45 PM
The systemic effects of 22q11.2 deletion syndrome on immunity. New review from Nicolai van Oers (UT Southwestern) and Kathleen Sullivan (@childrensphila.bsky.social): rupress.org/jhi/article/...
@clinimmsoc.bsky.social
#InbornErrorsOfImmunity #ImmunologicalPhenotypes #TCellDeficiencies
@clinimmsoc.bsky.social
#InbornErrorsOfImmunity #ImmunologicalPhenotypes #TCellDeficiencies
A 𝘞𝘈𝘚 promoter variant underlying Wiskott-Aldrich syndrome in two kindreds. New report from Pauline Ober, Christelle Lenoir, Jérémie Rosain @jrosain.bsky.social and collegues @upcite.bsky.social @hopitalnecker.bsky.social: rupress.org/jhi/article/...
#InbornErrorsOfImmunity #Diagnostics
#InbornErrorsOfImmunity #Diagnostics
November 6, 2025 at 2:31 PM
A 𝘞𝘈𝘚 promoter variant underlying Wiskott-Aldrich syndrome in two kindreds. New report from Pauline Ober, Christelle Lenoir, Jérémie Rosain @jrosain.bsky.social and collegues @upcite.bsky.social @hopitalnecker.bsky.social: rupress.org/jhi/article/...
#InbornErrorsOfImmunity #Diagnostics
#InbornErrorsOfImmunity #Diagnostics
JHI's November issue is here! rupress.org/jhi/issue/1/4
Cover shows how genetic and immunologic modifiers shape the penetrance of TNFRSF13B variants, redefining their contribution to antibody deficiency. From Abolhassani et al. See doi.org/10.70962/jhi...
Cover shows how genetic and immunologic modifiers shape the penetrance of TNFRSF13B variants, redefining their contribution to antibody deficiency. From Abolhassani et al. See doi.org/10.70962/jhi...
November 3, 2025 at 3:04 PM
JHI's November issue is here! rupress.org/jhi/issue/1/4
Cover shows how genetic and immunologic modifiers shape the penetrance of TNFRSF13B variants, redefining their contribution to antibody deficiency. From Abolhassani et al. See doi.org/10.70962/jhi...
Cover shows how genetic and immunologic modifiers shape the penetrance of TNFRSF13B variants, redefining their contribution to antibody deficiency. From Abolhassani et al. See doi.org/10.70962/jhi...
A systematic literature review of CVID reveals pervasive detrimental noninfectious manifestations. New study from Michelle Ducasa, Rebecca Marsh and colleagues: rupress.org/jhi/article/...
#ClinicalPhenotypes #InbornErrorsOfImmunity #Autoimmunity
#ClinicalPhenotypes #InbornErrorsOfImmunity #Autoimmunity
October 31, 2025 at 6:45 PM
A systematic literature review of CVID reveals pervasive detrimental noninfectious manifestations. New study from Michelle Ducasa, Rebecca Marsh and colleagues: rupress.org/jhi/article/...
#ClinicalPhenotypes #InbornErrorsOfImmunity #Autoimmunity
#ClinicalPhenotypes #InbornErrorsOfImmunity #Autoimmunity
The seven enigmas of #SARSCoV2: From the past to the future. New review from Evangelos Andreakos, Helen Su, Jean-Laurent Casanova (@casanovalab.bsky.social) and colleagues: rupress.org/jhi/article/...
#InbornErrorsOfImmunity #InfectiousDiseases #PopulationGenetics
#InbornErrorsOfImmunity #InfectiousDiseases #PopulationGenetics
October 31, 2025 at 2:45 PM
The seven enigmas of #SARSCoV2: From the past to the future. New review from Evangelos Andreakos, Helen Su, Jean-Laurent Casanova (@casanovalab.bsky.social) and colleagues: rupress.org/jhi/article/...
#InbornErrorsOfImmunity #InfectiousDiseases #PopulationGenetics
#InbornErrorsOfImmunity #InfectiousDiseases #PopulationGenetics
New review: Nicolai van Oers and Kathleen Sullivan summarize 22q11.2 deletion syndrome, which has complex clinical presentations, with congenital malformations of the thymus leading to many immune system changes. rupress.org/jhi/article/...
@clinimmsoc.bsky.social
#InbornErrorsOfImmunity
@clinimmsoc.bsky.social
#InbornErrorsOfImmunity
October 30, 2025 at 5:30 PM
New review: Nicolai van Oers and Kathleen Sullivan summarize 22q11.2 deletion syndrome, which has complex clinical presentations, with congenital malformations of the thymus leading to many immune system changes. rupress.org/jhi/article/...
@clinimmsoc.bsky.social
#InbornErrorsOfImmunity
@clinimmsoc.bsky.social
#InbornErrorsOfImmunity
Noyer, @stefanfeske.bsky.social et al show that a novel mutation in ORAI1 results in constitutive CRAC channel activation while abolishing stimulation-induced channel opening. The mutation is associated with severe immune dysregulation, incl. altered T & NK cell function rupress.org/jhi/article/...
October 30, 2025 at 4:45 PM
Noyer, @stefanfeske.bsky.social et al show that a novel mutation in ORAI1 results in constitutive CRAC channel activation while abolishing stimulation-induced channel opening. The mutation is associated with severe immune dysregulation, incl. altered T & NK cell function rupress.org/jhi/article/...
Ober, Lenoir, @jrosain.bsky.social et al. report the same ultra-rare pathogenic noncoding single-nucleotide variant in the promoter of WAS in four male patients from two unrelated kindreds w/ features of Wiskott-Aldrich Syndrome. rupress.org/jhi/article/...
@esidsociety.bsky.social
@esidsociety.bsky.social
October 30, 2025 at 4:01 PM
Ober, Lenoir, @jrosain.bsky.social et al. report the same ultra-rare pathogenic noncoding single-nucleotide variant in the promoter of WAS in four male patients from two unrelated kindreds w/ features of Wiskott-Aldrich Syndrome. rupress.org/jhi/article/...
@esidsociety.bsky.social
@esidsociety.bsky.social
Auto-Abs against type I IFNs: strong, common, and global determinants of severe #arboviral diseases. New review from Adrian Gervais, Alessandro Borghesi (@esibor.bsky.social), Jean-Laurent Casanova (@casanovalab.bsky.social), and Shen-Ying Zhang @inserm.fr: rupress.org/jhi/article/...
October 30, 2025 at 1:45 PM
Auto-Abs against type I IFNs: strong, common, and global determinants of severe #arboviral diseases. New review from Adrian Gervais, Alessandro Borghesi (@esibor.bsky.social), Jean-Laurent Casanova (@casanovalab.bsky.social), and Shen-Ying Zhang @inserm.fr: rupress.org/jhi/article/...
A heterozygous USB1 variant linked to #immunodeficiency. New study from Alice Valagussa, Sven Kracker and colleagues @institutimagine.bsky.social @inserm.fr: rupress.org/jhi/article/...
#Diagnostics #InbornErrorsOfImmunity #ClinicalPhenotypes
#Diagnostics #InbornErrorsOfImmunity #ClinicalPhenotypes
October 29, 2025 at 2:15 PM
A heterozygous USB1 variant linked to #immunodeficiency. New study from Alice Valagussa, Sven Kracker and colleagues @institutimagine.bsky.social @inserm.fr: rupress.org/jhi/article/...
#Diagnostics #InbornErrorsOfImmunity #ClinicalPhenotypes
#Diagnostics #InbornErrorsOfImmunity #ClinicalPhenotypes
Noninfectious manifestations of CVID have not been formally summarized. In this systematic literature review, Ducasa, Marsh et al. provide a comprehensive summary as a reference point for the field, revealing pervasive detrimental noninfectious manifestations. rupress.org/jhi/article/...
October 24, 2025 at 5:15 PM
Noninfectious manifestations of CVID have not been formally summarized. In this systematic literature review, Ducasa, Marsh et al. provide a comprehensive summary as a reference point for the field, revealing pervasive detrimental noninfectious manifestations. rupress.org/jhi/article/...
In this review, Andreakos et al. report the progress of the COVID Human Genetic Effort since its launch 5 years ago, with the aim to understand clinical variability, from resistance to severe outcomes, among individuals exposed to #SARSCoV2. rupress.org/jhi/article/...
#InbornErrorsOfImmunity
#InbornErrorsOfImmunity
October 24, 2025 at 4:32 PM
In this review, Andreakos et al. report the progress of the COVID Human Genetic Effort since its launch 5 years ago, with the aim to understand clinical variability, from resistance to severe outcomes, among individuals exposed to #SARSCoV2. rupress.org/jhi/article/...
#InbornErrorsOfImmunity
#InbornErrorsOfImmunity