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
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Journal of Human Immunity (JHI) @jhumimmunity.org is here! Read the inaugural editorial by @casanovalab.bsky.social outlining #JHI’s vision as the destination for groundbreaking research in human immunity and inborn errors of immunity. https://buff.ly/4hRGpOb
#OpenAccess
#OpenAccess
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
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
#InbornErrorsOfImmunity #COVID19 #SARSCoV2
November 11, 2025 at 3:45 PM
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
#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/...
November 10, 2025 at 5:00 PM
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
#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
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
#InbornErrorsOfImmunity #COVID19
November 4, 2025 at 5:00 PM
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
#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...
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
Reposted by Journal of Human Immunity
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
October 31, 2025 at 2:58 PM
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
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
Reposted by Journal of Human Immunity
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
Reposted by Journal of Human Immunity
Great review from the experts - still lots to learn about this #inbornerrorofimmunity
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 9:11 PM
Great review from the experts - still lots to learn about this #inbornerrorofimmunity
Reposted by Journal of Human Immunity
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
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
Reposted by Journal of Human Immunity
Have you considered submitting a paper to @jhumimmunity.org ?
To know more about us, please read our inaugural editorial: rupress.org/jhi/article/...
To know more about us, please read our inaugural editorial: rupress.org/jhi/article/...
Human immunity | Journal of Human Immunity | Rockefeller University Press
Human immunity is often insufficient against infectious agents and sometimes over-reactive to innocuous components of the environment or the human body. Ge
rupress.org
October 26, 2025 at 8:09 AM
Have you considered submitting a paper to @jhumimmunity.org ?
To know more about us, please read our inaugural editorial: rupress.org/jhi/article/...
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/...
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
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/...
October 23, 2025 at 4:01 PM
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/...
October 22, 2025 at 4:30 PM
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
🎥 See a video summary: youtu.be/cYSBIU0lh6U
Partial STX11 deficiency due to a hypomorphic variant—self-limiting inflammatory disease preceding HLH onset | Journal of Human Immunity | Rockefeller University Press
Recently developed in vitro technology was used to define the function of a previously uncharacterized STX11 mutation L135P present in a patient with atypi
rupress.org
October 21, 2025 at 5:59 PM
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
🎥 See a video summary: youtu.be/cYSBIU0lh6U