Alessandro Borghesi
@esibor.bsky.social
MD, PhD, Committed to child and neonatal health / human genomics of infectious diseases / windsurfing / caring for the environment
The place to publish your best papers
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
rupress.org/jhi
Journal of Human Immunity | Rockefeller University Press
Journal of Human Immunity (JHI) publishes papers that provide novel insights into the physiology and pathology of human immunity through the study of genetic defects and their phenocopies, including t...
rupress.org
November 1, 2025 at 2:33 PM
The place to publish your best papers
More than a review: a detailed description of the principles to study any infectious disease, by the covidhge.com
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 31, 2025 at 8:28 AM
More than a review: a detailed description of the principles to study any infectious disease, by the covidhge.com
Auto-Abs against type I IFNs: strong, common, and global determinants of severe #arboviral diseases
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 31, 2025 at 8:16 AM
Auto-Abs against type I IFNs: strong, common, and global determinants of severe #arboviral diseases
Reposted by Alessandro Borghesi
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/...
ORAI1 mutation with mixed loss- and gain-of-function properties causes immunodeficiency and HLH url: rupress.org/jhi/article/...
ORAI1 mutation with mixed loss- and gain-of-function properties causes immunodeficiency and HLH | Journal of Human Immunity | Rockefeller University Press
A novel mutation in ORAI1 results in constitutive CRAC channel activation while abolishing stimulation-induced channel opening. The mutation is associated
rupress.org
October 30, 2025 at 2:15 PM
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/...
ORAI1 mutation with mixed loss- and gain-of-function properties causes immunodeficiency and HLH url: rupress.org/jhi/article/...
Reposted by Alessandro Borghesi
Don't forget sequencing the promoter !
A WAS promoter variant underlying Wiskott-Aldrich syndrome in two kindreds url: rupress.org/jhi/article/...
A WAS promoter variant underlying Wiskott-Aldrich syndrome in two kindreds url: rupress.org/jhi/article/...
A WAS promoter variant underlying Wiskott-Aldrich syndrome in two kindreds | Journal of Human Immunity | Rockefeller University Press
We report the same ultra-rare pathogenic noncoding single-nucleotide variant in the promoter of WAS in four male patients from two unrelated kindreds with
rupress.org
October 30, 2025 at 2:16 PM
Don't forget sequencing the promoter !
A WAS promoter variant underlying Wiskott-Aldrich syndrome in two kindreds url: rupress.org/jhi/article/...
A WAS promoter variant underlying Wiskott-Aldrich syndrome in two kindreds url: rupress.org/jhi/article/...
Reposted by Alessandro Borghesi
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
Life-threatening arboviral diseases are being increasingly explained by auto-Abs neutralizing type I IFNs. The other way out, type I IFNs are emerging as ‘strong, common and global determinants’ of life-threatening (arbo)viral diseases
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/...
Auto-Abs against type I IFNs: Strong, common, and global determinants of severe arboviral diseases url: rupress.org/jhi/article/...
Auto-Abs against type I IFNs: Strong, common, and global determinants of severe arboviral diseases | Journal of Human Immunity | Rockefeller University Press
Autoantibodies neutralizing antiviral type I IFNs (AAN-I-IFN) underlie a small but growing number of severe arboviral diseases. These auto-Abs are strong,
rupress.org
October 24, 2025 at 5:55 PM
Life-threatening arboviral diseases are being increasingly explained by auto-Abs neutralizing type I IFNs. The other way out, type I IFNs are emerging as ‘strong, common and global determinants’ of life-threatening (arbo)viral diseases
One medically relevant and biologically intriguing life-threatening disease progressively deciphered
Novel genotypes, phenotypes, and triggers in humans with OTULIN haploinsufficiency url: rupress.org/jhi/article/...
Novel genotypes, phenotypes, and triggers in humans with OTULIN haploinsufficiency | Journal of Human Immunity | Rockefeller University Press
Human OTULIN haploinsufficiency causes life-threatening staphylococcal disease, but the genotypic and phenotypic spectrum of the disorder remains largely u
rupress.org
October 3, 2025 at 6:18 AM
One medically relevant and biologically intriguing life-threatening disease progressively deciphered
Reposted by Alessandro Borghesi
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/...
Cartilage-hair hypoplasia: A comprehensive review url: rupress.org/jhi/article/...
Cartilage-hair hypoplasia: A comprehensive review | Journal of Human Immunity | Rockefeller University Press
This comprehensive review of cartilage-hair hypoplasia (CHH) by Vakkilainen summarizes 60 years of CHH research, covering genetic aspects, pathogenesis, cl
rupress.org
October 3, 2025 at 5:02 AM
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/...
Cartilage-hair hypoplasia: A comprehensive review url: rupress.org/jhi/article/...
Reposted by Alessandro Borghesi
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/...
Toward universal screening for disease-causing alleles: Mendelian susceptibility to mycobacterial disease as a model url: rupress.org/jhi/article/...
Toward universal screening for disease-causing alleles: Mendelian susceptibility to mycobacterial disease as a model | Journal of Human Immunity | Rockefeller University Press
This Perspective proposes universal genomic screening as a life-course strategy, using Mendelian susceptibility to mycobacterial disease as a model to demo
rupress.org
September 29, 2025 at 3:23 PM
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/...
Toward universal screening for disease-causing alleles: Mendelian susceptibility to mycobacterial disease as a model url: rupress.org/jhi/article/...
Reposted by Alessandro Borghesi
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/...
Inherited IL-18BP deficiency in two Egyptian siblings with fulminant viral hepatitis url: rupress.org/jhi/article/...
Inherited IL-18BP deficiency in two Egyptian siblings with fulminant viral hepatitis | Journal of Human Immunity | Rockefeller University Press
A previous report described an inherited deficiency of IL-18BP, a soluble antagonist of IL-18, in an Algerian patient who died of fulminant viral hepatitis
rupress.org
September 29, 2025 at 7:32 AM
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/...
Inherited IL-18BP deficiency in two Egyptian siblings with fulminant viral hepatitis url: rupress.org/jhi/article/...
Reposted by Alessandro Borghesi
Thomas Weitering, Mirjam van der Burg et al. @unileiden.bsky.social review the available literature on newborn screening outcomes and neonatal TREC levels in patients with #AtaxiaTelangiectasia, as well as the available symptomatic treatment options
Clinical challenges following early detection of ataxia telangiectasia through SCID newborn screening | Journal of Human Immunity | Rockefeller University Press
Ataxia telangiectasia is a genetic disorder involving neurodegeneration, immunodeficiency, and cancer risk. It can be identified as incidental finding in n
rupress.org
September 17, 2025 at 6:52 PM
Thomas Weitering, Mirjam van der Burg et al. @unileiden.bsky.social review the available literature on newborn screening outcomes and neonatal TREC levels in patients with #AtaxiaTelangiectasia, as well as the available symptomatic treatment options
Reposted by Alessandro Borghesi
A MUST-READ Review on Penetrance of Human Monogenic Inborn Errors (of Immunity, or not):
Incomplete penetrance in inborn errors of immunity: A skeleton in the closet—The sequel url: rupress.org/jhi/article/...
Incomplete penetrance in inborn errors of immunity: A skeleton in the closet—The sequel url: rupress.org/jhi/article/...
Incomplete penetrance in inborn errors of immunity: A skeleton in the closet—The sequel | Journal of Human Immunity | Rockefeller University Press
Incomplete penetrance in genetic disorders can be influenced by genetic variant quality, genetic and epigenetic modification, environment, and mosaicism.
rupress.org
August 19, 2025 at 12:53 PM
A MUST-READ Review on Penetrance of Human Monogenic Inborn Errors (of Immunity, or not):
Incomplete penetrance in inborn errors of immunity: A skeleton in the closet—The sequel url: rupress.org/jhi/article/...
Incomplete penetrance in inborn errors of immunity: A skeleton in the closet—The sequel url: rupress.org/jhi/article/...
Reposted by Alessandro Borghesi
A superb Review on a new syndromic IEI, due to GOF mutations in G protein-encoding GNAI2:
MAGIS syndrome: Phenotypes, pathogenesis, and treatment url: rupress.org/jhi/article/...
MAGIS syndrome: Phenotypes, pathogenesis, and treatment url: rupress.org/jhi/article/...
MAGIS syndrome: Phenotypes, pathogenesis, and treatment | Journal of Human Immunity | Rockefeller University Press
The inherited syndromic immunodysregulatory disorder MAGIS demonstrates the central role of Gαi2 regulation of chemotaxis in humans and a novel pathway by
rupress.org
August 15, 2025 at 2:29 AM
A superb Review on a new syndromic IEI, due to GOF mutations in G protein-encoding GNAI2:
MAGIS syndrome: Phenotypes, pathogenesis, and treatment url: rupress.org/jhi/article/...
MAGIS syndrome: Phenotypes, pathogenesis, and treatment url: rupress.org/jhi/article/...
Reposted by Alessandro Borghesi
Functional validation of PIK3R1 variant causing activated phosphoinositide 3-kinase-δ syndrome 2 with hypogammaglobulinemia and bronchiectasis url: rupress.org/jhi/article/...
Functional validation of PIK3R1 variant causing activated phosphoinositide 3-kinase-δ syndrome 2 with hypogammaglobulinemia and bronchiectasis | Journal of Human Immunity | Rockefeller University Pres...
Authors report a patient with recurrent respiratory infections and bronchiectasis due to an atypical splice-site PIK3R1 variant causing APDS2. Functional s
rupress.org
August 14, 2025 at 4:00 AM
Functional validation of PIK3R1 variant causing activated phosphoinositide 3-kinase-δ syndrome 2 with hypogammaglobulinemia and bronchiectasis url: rupress.org/jhi/article/...
Reposted by Alessandro Borghesi
Ethical and equitable considerations when establishing a diagnosis of an inborn error of immunity url: rupress.org/jhi/article/...
Ethical and equitable considerations when establishing a diagnosis of an inborn error of immunity | Journal of Human Immunity | Rockefeller University Press
This article describes the ethical dilemmas encountered by clinical immunologists in the evaluation of an inborn error of immunity. Potential sources of he
rupress.org
August 7, 2025 at 6:34 PM
Ethical and equitable considerations when establishing a diagnosis of an inborn error of immunity url: rupress.org/jhi/article/...
Reposted by Alessandro Borghesi
A must-read for anyone interested in human B cell physiology or pathology !
.@alneehus.bsky.social, @romberglab.bsky.social and @bloodgenes.bsky.social review how genetic variation impacts early B cell development, & discuss inherited rare variants & more common polymorphisms that predispose to B cell-related immune disorders & malignancies rupress.org/jhi/article/...
June 25, 2025 at 4:44 PM
A must-read for anyone interested in human B cell physiology or pathology !
Reposted by Alessandro Borghesi
A timely and welcome clarification:
Evaluating IL1RA‐Autoantibodies Across SARS‐CoV‐2‐Related Diseases - Behere - 2025 - Scandinavian Journal of Immunology - Wiley Online Library onlinelibrary.wiley.com/doi/10.1111/...
Evaluating IL1RA‐Autoantibodies Across SARS‐CoV‐2‐Related Diseases - Behere - 2025 - Scandinavian Journal of Immunology - Wiley Online Library onlinelibrary.wiley.com/doi/10.1111/...
Evaluating IL1RA‐Autoantibodies Across SARS‐CoV‐2‐Related Diseases
Click on the article title to read more.
onlinelibrary.wiley.com
June 25, 2025 at 11:25 AM
A timely and welcome clarification:
Evaluating IL1RA‐Autoantibodies Across SARS‐CoV‐2‐Related Diseases - Behere - 2025 - Scandinavian Journal of Immunology - Wiley Online Library onlinelibrary.wiley.com/doi/10.1111/...
Evaluating IL1RA‐Autoantibodies Across SARS‐CoV‐2‐Related Diseases - Behere - 2025 - Scandinavian Journal of Immunology - Wiley Online Library onlinelibrary.wiley.com/doi/10.1111/...
Reposted by Alessandro Borghesi
🎉 Félicitations à Jean-Laurent Casanova pour sa nomination à l’Académie Européenne des Sciences ! @casanovalab.bsky.social
Une belle reconnaissance pour un parcours scientifique remarquable, au service de la médecine et de l’innovation. Pour en savoir plus : lnkd.in/ePBeXKFB
Une belle reconnaissance pour un parcours scientifique remarquable, au service de la médecine et de l’innovation. Pour en savoir plus : lnkd.in/ePBeXKFB
June 16, 2025 at 8:52 AM
🎉 Félicitations à Jean-Laurent Casanova pour sa nomination à l’Académie Européenne des Sciences ! @casanovalab.bsky.social
Une belle reconnaissance pour un parcours scientifique remarquable, au service de la médecine et de l’innovation. Pour en savoir plus : lnkd.in/ePBeXKFB
Une belle reconnaissance pour un parcours scientifique remarquable, au service de la médecine et de l’innovation. Pour en savoir plus : lnkd.in/ePBeXKFB
Reposted by Alessandro Borghesi
An infant who contracted Mycobacterium #tuberculosis revealed clinical manifestations suggestive of BCG infection. The identification of the Mycobacterium species is pivotal in determining the appropriate therapeutic regimen. From Espinosa-Padilla, Blancas-Galicia et al.: rupress.org/jhi/article/...
June 13, 2025 at 4:13 PM
An infant who contracted Mycobacterium #tuberculosis revealed clinical manifestations suggestive of BCG infection. The identification of the Mycobacterium species is pivotal in determining the appropriate therapeutic regimen. From Espinosa-Padilla, Blancas-Galicia et al.: rupress.org/jhi/article/...
Reposted by Alessandro Borghesi
1/ Today we are proud to feature our former trainee Xiao-Fei Kong– a PhD student (2007-10), postdoc (2010-12) and finally an instructor of clinical investigation at @rockefelleruniv.bsky.social (2012-15) who is now a physician-scientist and assistant professor at UTSW Internal Medicine, Dallas, TX
June 9, 2025 at 4:15 PM
1/ Today we are proud to feature our former trainee Xiao-Fei Kong– a PhD student (2007-10), postdoc (2010-12) and finally an instructor of clinical investigation at @rockefelleruniv.bsky.social (2012-15) who is now a physician-scientist and assistant professor at UTSW Internal Medicine, Dallas, TX
Reposted by Alessandro Borghesi
Nice therapeutic success !
Successful coil occlusion of intracranial aneurysm in a child with STAT3 hyper IgE syndrome url:https://rupress.org/jhi/article/1/2/e20250028/277987/Successful-coil-occlusion-of-intracranial-aneurysm
Successful coil occlusion of intracranial aneurysm in a child with STAT3 hyper IgE syndrome url:https://rupress.org/jhi/article/1/2/e20250028/277987/Successful-coil-occlusion-of-intracranial-aneurysm
June 3, 2025 at 4:08 PM
Nice therapeutic success !
Successful coil occlusion of intracranial aneurysm in a child with STAT3 hyper IgE syndrome url:https://rupress.org/jhi/article/1/2/e20250028/277987/Successful-coil-occlusion-of-intracranial-aneurysm
Successful coil occlusion of intracranial aneurysm in a child with STAT3 hyper IgE syndrome url:https://rupress.org/jhi/article/1/2/e20250028/277987/Successful-coil-occlusion-of-intracranial-aneurysm
Reposted by Alessandro Borghesi
🧬 Une nouvelle revue scientifique sur l’immunité innée
L’Institut Imagine se réjouit de partager le lancement du Journal of Human Immunity (JHI), un journal scientifique international en libre accès, qui a pour rédacteur en chef et fondateur le Pr Jean-Laurent Casanova : rupress.org/JHI
L’Institut Imagine se réjouit de partager le lancement du Journal of Human Immunity (JHI), un journal scientifique international en libre accès, qui a pour rédacteur en chef et fondateur le Pr Jean-Laurent Casanova : rupress.org/JHI
May 26, 2025 at 10:19 AM
🧬 Une nouvelle revue scientifique sur l’immunité innée
L’Institut Imagine se réjouit de partager le lancement du Journal of Human Immunity (JHI), un journal scientifique international en libre accès, qui a pour rédacteur en chef et fondateur le Pr Jean-Laurent Casanova : rupress.org/JHI
L’Institut Imagine se réjouit de partager le lancement du Journal of Human Immunity (JHI), un journal scientifique international en libre accès, qui a pour rédacteur en chef et fondateur le Pr Jean-Laurent Casanova : rupress.org/JHI
Methods to assess auto-Abs to type I IFNs (#2). ‘Rapid Detection of Anti-IFN-α2 Autoantibodies Using a New Automated VIDAS Assay Prototype’ by Sophie Trouillet-Assant & team onlinelibrary.wiley.com/doi/10.1002/...
Rapid Detection of Anti‐IFN‐α2 Autoantibodies Using a New Automated VIDAS Assay Prototype
Autoantibodies neutralizing Type I interferons increase the risk of severe viral diseases and are linked to autoimmune conditions. The automated VIDAS assay is suitable for anti-IFN-α2 IgGs quantific....
onlinelibrary.wiley.com
April 17, 2025 at 10:11 AM
Methods to assess auto-Abs to type I IFNs (#2). ‘Rapid Detection of Anti-IFN-α2 Autoantibodies Using a New Automated VIDAS Assay Prototype’ by Sophie Trouillet-Assant & team onlinelibrary.wiley.com/doi/10.1002/...
Methods to assess auto-Abs neutralizing type I IFNs (#1). In vitro viral infection experiments www.nature.com/articles/s41...
Human type I interferons protect Vero E6 and ARPE-19 cells against West Nile virus and are neutralized by pathogenic autoantibodies - Scientific Reports
Scientific Reports - Human type I interferons protect Vero E6 and ARPE-19 cells against West Nile virus and are neutralized by pathogenic autoantibodies
www.nature.com
April 17, 2025 at 9:57 AM
Methods to assess auto-Abs neutralizing type I IFNs (#1). In vitro viral infection experiments www.nature.com/articles/s41...