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

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/...

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!

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

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

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

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

Early identification of delayed-onset ADA deficiency: The case for expanded first-tier newborn screening. New report from Kristine Jeganathan, Anne Pham-Huy and colleagues (Children’s Hospital of Eastern Ontario @uottawa.ca): rupress.org/jhi/article/... #InbornErrorsOfImmunity #Diagnostics

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

Nirmatrelvir/ritonavir use reduces risk for #longCOVID in patients with #immunodeficiency. New study from Karen Gilbert, Mei-Sing Ong, Jocelyn Farmer (Lahey Hospital) and colleagues: rupress.org/jhi/article/... #InbornErrorsOfImmunity #COVID19 #SARSCoV2

Jeganathan, Pham-Huy et al. @uottawa.ca report that standard newborn screening using T cell receptor excision circles (TRECs) failed to detect delayed-onset ADA deficiency in two cases. But retrospective MS/MS analysis showed diagnostic deoxyadenosine elevation at birth. rupress.org/jhi/article/...

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

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

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

Retrospective study from Gilbert, Ong, Farmer et al. highlights that acute use of nirmatrelvir/ritonavir significantly reduces the risk of post-acute sequelae of #SARSCoV2 infection (#longCOVID) in immunodeficient patients. rupress.org/jhi/article/... #InbornErrorsOfImmunity #COVID19

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...

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

Already 53 phenomenal papers published in the @jhumimmunity.org ! Look it up and submit your best papers to the only journal focused on human inborn errors of immunity, their phenocopies, and related topics in human immunology: rupress.org/jhi

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

More than a review: a detailed description of the principles to study any infectious disease, by the covidhge.com

Great review from the experts - still lots to learn about this #inbornerrorofimmunity

Auto-Abs against type I IFNs: strong, common, and global determinants of severe #arboviral diseases

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

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

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

Have you considered submitting a paper to @jhumimmunity.org ? To know more about us, please read our inaugural editorial: rupress.org/jhi/article/...

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

Gervais, @esibor.bsky.social, @casanovalab.bsky.social, and Zhang review how #autoantibodies neutralizing antiviral type I IFNs underlie a small but growing number of severe #arboviral diseases. Genetic defects of type I IFN immunity may underlie other unexplained cases. rupress.org/jhi/article/...

New study from Valagussa, Kracker et al. @institutimagine.bsky.social identifies and characterizes a novel heterozygous USB1 variant (p.P44L) in a patient with #hypogammaglobulinemia and low #neutrophil counts, showing altered protein localization and function. rupress.org/jhi/article/...

Noori, Banday, Voskoboinik et al use recently developed in vitro technology to define the function of a previously uncharacterized STX11 mutation L135P in a patient w/ atypical familial hemophagocytic lymphohistiocytosis. rupress.org/jhi/article/... 🎥 See a video summary: youtu.be/cYSBIU0lh6U

Another exciting collaborative paper in the @jhumimmunity.org: Two different forms of inherited human TCRα chain deficiency url: rupress.org/jhi/article/...

A novel heterozygous pathogenic AIRE variant causing #autoimmunity but not infectious susceptibility. New study from Mounavi Vemula, Alberto Pinzon-Charry (Children's Health Queensland) & colleagues: rupress.org/jhi/article/... @anne-puel.bsky.social @casanovalab.bsky.social #InbornErrorsOfImmunity

Partial STX11 deficiency due to a hypomorphic variant—self-limiting inflammatory disease preceding HLH onset. A new Research Letter from Tahereh Noori, Aaqib Zaffar Banday, Ilia Voskoboinik et al. rupress.org/jhi/article/... 🎥 See short video summary: youtu.be/cYSBIU0lh6U #Immunodeficiency

This epidemiological study of #CGD in Latin America by Tiago Santos de Oliveira, Antonio Condino-Neto et al. emphasizes the need for better diagnosis, newborn screening, regional treatment guidelines, & expanded access to effective therapies rupress.org/jhi/article/... @lasidofficial.bsky.social

Vemula, Pinzon-Charry et al. describe a novel heterozygous variant in AIRE in 3 individuals with mild #APECED. This variant was validated as being pathogenic by a mechanism of negative dominance. This represents new cases of autosomal dominant APECED. rupress.org/jhi/article/... #Autoimmunity

Cartilage-hair hypoplasia: A comprehensive review. Svetlana Vakkilainen summarizes 60 years of CHH research, covering genetic aspectss, pathogenesis, clinical & laboratory features, as well as diagnostic & management considerations rupress.org/jhi/article/... #InbornErrorsOfImmunity

Tahereh Noori, Aaqib Zaffar Banday, Ilia Voskoboinik et al use recently developed in vitro technology to define the function of a previously uncharacterized STX11 mutation L135P in a patient w/ atypical familial hemophagocytic lymphohistiocytosis. rupress.org/jhi/article/... @petermaccc.bsky.social

Novel genotypes, phenotypes, and triggers in humans with #OTULIN #haploinsufficiency. Tristan van der Linden, András Spaan et al. characterize six unrelated patients in whom severe #necrosis followed infectious and/or traumatic triggers. rupress.org/jhi/article/... #Staphylococcus #Ubiquitin

Tiago Santos de Oliveira, Antonio Condino-Neto et al. describe #CGD #epidemiology in Latin America, highlighting high infection risks, limited treatment options, & poor survival rates, especially for males with XL-CGD. rupress.org/jhi/article/... #InbornErrorsOfImmunity @lasidofficial.bsky.social

Toward universal screening for disease-causing alleles: Mendelian susceptibility to mycobacterial disease as a model. A Perspective by Farida Almarzooqi and Ahmed Aziz Bousfiha: rupress.org/jhi/article/... #Mycobacteria #Tuberculosis #TB

Inherited IL-18BP deficiency in two Egyptian siblings with fulminant viral hepatitis. A report by Dalia Abd Elaziz, Alperen Baran, Aysima Atilgan Lulecioglu, Hanaa El-Karaksy, @casanovalab.bsky.social, Serkan Belkaya, Emmanuelle Jouanguy et al. rupress.org/jhi/article/... #InbornErrorsOfImmunity