In less than 8 months, @jhumimmunity has published 56 papers (rupress.org/jhi), including 10 already on PubMed (pubmed.ncbi.nlm.nih.gov?term=j+hum+i...). Please submit studies of human inborn errors of immunity and their phenocopies (rupress.org/jhi/article-...) !

Whipple's disease was an inflammatory condition for decades, it became an infectious disease some years ago, and it is now becoming a genetic disorder: IRF4 haploinsufficiency in a multiplex family with Whipple’s disease url: rupress.org/jhi/article/...

Early identification of delayed-onset ADA deficiency: The case for expanded first-tier newborn screening url: rupress.org/jhi/article/...

Review: Auto-Abs against type I IFNs: Strong, common, and global determinants of severe arboviral diseases @jhumimmunity.org @casanovalab.bsky.social @shenyingzhang1.bsky.social rupress.org/jhi/article/...

Review @jhumimmunity.org @casanovalab.bsky.social The seven enigmas of SARS-CoV-2: From the past to the future rupress.org/jhi/article/...

Nirmatrelvir/ritonavir use reduces risk for long COVID in patients with immunodeficiency url: rupress.org/jhi/article/...

Dominant genetically but recessive operationally 🙂 Genetically heterozygous - transcriptionally homozygous IRF7 deficiency underlies herpesvirus CNS infections in humans url: rupress.org/jem/article-...

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

A superb and comprehensive Review: The systemic effects of 22q11.2 deletion syndrome on immunity url: rupress.org/jhi/article/...

Now on PubMed: Improved outcome of HSCT in STAT1 gain-of-function disease following JAK inhibition bridging url: 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

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/...

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/...

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

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

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/...

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

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/...

Don't forget sequencing the promoter ! A WAS promoter variant underlying Wiskott-Aldrich syndrome in two kindreds url: rupress.org/jhi/article/...

A fascinating genetic and mechanistic study: ORAI1 mutation with mixed loss- and gain-of-function properties causes immunodeficiency and HLH url: rupress.org/jhi/article/...

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

covidhge.com has had a great ride and it's only been the beginning ! The seven enigmas of SARS-CoV-2: From the past to the future url: rupress.org/jhi/article/...

Auto-Abs against type I IFNs: Strong, common, and global determinants of severe arboviral diseases url: rupress.org/jhi/article/...

A heterozygous USB1 variant linked to immunodeficiency url: rupress.org/jhi/article/...

A systematic literature review of CVID reveals pervasive detrimental noninfectious manifestations url: rupress.org/jhi/article/...

#Medsky🧪 #IDSky #immunosky #publichealth @casanovalab.bsky.social @petterbrodin.bsky.social et al A global effort to define the human genetics of protective immunity to #SARSCoV2 infection & the clinical variability among #COVID- exposed individuals.

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

A Review of auto-Abs neutralizing type I IFN in patients with arboviral diseases: Auto-Abs against type I IFNs: Strong, common, and global determinants of severe arboviral diseases url: rupress.org/jhi/article/...

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/...

We report a 5'UTR variant in YEATS4 that confers resistance to tuberculosis through altering the translation of the YEATS4 open-reading frame! Congrats to Clement Conil and colleagues at @casanovalab.bsky.social! It was fun to help with this story! link.springer.com/article/10.1...

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

A novel heterozygous pathogenic AIRE variant causing autoimmunity but not infectious susceptibility url: rupress.org/jhi/article/...

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

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

Last Friday members of our NY lab braved the chilly fall weather to lunch on Bánh Mì al fresco. This HGID crew is a hardy bunch that doesn’t let much stand in their way!

In @jhumimmunity.org, Vemula, Pinzon-Charry et al. describe a novel heterozygous variant in AIRE in 3 individuals w/ 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/...

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

Partial STX11 deficiency due to a hypomorphic variant—self-limiting inflammatory disease preceding HLH onset url: rupress.org/jhi/article/...

Clinical features, genotypes, and geographic distribution of 238 Latin American CGD patients url: rupress.org/jhi/article/...

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

Everything you always wanted to know about Cartilage-hair hypoplasia but never dared asking: Cartilage-hair hypoplasia: A comprehensive review url: rupress.org/jhi/article/...

Novel genotypes, phenotypes, and triggers in humans with OTULIN haploinsufficiency url: rupress.org/jhi/article/...

1/ This week we spotlight @ariasaas.bsky.social, a postdoc and visiting prof in our New York Branch from 2020 – 2022 and now a full professor at University of Antioquia, Medellín, Colombia. During his training, he worked in our mycobacterium research team on the human genetic causes of TB

The question is not IF but WHEN: Toward universal screening for disease-causing alleles: Mendelian susceptibility to mycobacterial disease as a model url: rupress.org/jhi/article/...

Fulminant viral hepatitis is less and less "idiopathic": Inherited IL-18BP deficiency in two Egyptian siblings with fulminant viral hepatitis url: rupress.org/jhi/article/...

1/ We are celebrating the Novo Nordisk Prize Symposium: Inborn Errors of Immunity – a huge success yesterday at the @institutimagine.bsky.social in Paris featuring talks by 19 leading European researchers on human IEI

The potential impacts of human genetics on virus emergence - PubMed ->National Library of Medicine | #Virus | More info from BigEarthData.ai