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
Pinned
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
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/...
Reposted by Journal of Human Immunity
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/...
November 21, 2025 at 2:09 AM
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/...
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
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
#InbornErrorsOfImmunity #Diagnostics
Early identification of delayed-onset ADA deficiency: The case for expanded first-tier newborn screening | Journal of Human Immunity | Rockefeller University Press
Standard newborn screening using T cell receptor excision circles (TRECs) failed to detect delayed-onset ADA deficiency in two cases. Retrospective mass sp
rupress.org
November 17, 2025 at 3:15 PM
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
#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
@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/...