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
This review by @alneehus.bsky.social @bloodgenes.bsky.social @casanovalab.bsky.social & Bustamante covers the human genetic defects affecting the phagocytic respiratory burst, highlighting the dichotomy between defects of the core NADPH oxidase and of upstream regulators. rupress.org/jhi/article/...
September 18, 2026 at 4:30 PM
This review by @alneehus.bsky.social @bloodgenes.bsky.social @casanovalab.bsky.social & Bustamante covers the human genetic defects affecting the phagocytic respiratory burst, highlighting the dichotomy between defects of the core NADPH oxidase and of upstream regulators. rupress.org/jhi/article/...
Adult-onset Still’s disease is challenging to diagnose. Chong et al. examine the clinical utility of skin biopsy, an inexpensive & widely available test, in 16 patients and show that dyskeratotic keratinocytes in the superficial layers are useful for diagnosing #AOSD. rupress.org/jhi/article/...
September 18, 2026 at 4:00 PM
Adult-onset Still’s disease is challenging to diagnose. Chong et al. examine the clinical utility of skin biopsy, an inexpensive & widely available test, in 16 patients and show that dyskeratotic keratinocytes in the superficial layers are useful for diagnosing #AOSD. rupress.org/jhi/article/...
#InMemoriam: Daniel L. Kastner, MD (1951–2026)
Sudhir Gupta, Raphaela Goldbach-Mansky & Ivona Aksentijevich pay tribute to the founder of the field of autoinflammatory diseases, an extraordinary translational investigator, a dedicated mentor, & a compassionate physician. rupress.org/jhi/article/...
Sudhir Gupta, Raphaela Goldbach-Mansky & Ivona Aksentijevich pay tribute to the founder of the field of autoinflammatory diseases, an extraordinary translational investigator, a dedicated mentor, & a compassionate physician. rupress.org/jhi/article/...
September 18, 2026 at 1:45 PM
#InMemoriam: Daniel L. Kastner, MD (1951–2026)
Sudhir Gupta, Raphaela Goldbach-Mansky & Ivona Aksentijevich pay tribute to the founder of the field of autoinflammatory diseases, an extraordinary translational investigator, a dedicated mentor, & a compassionate physician. rupress.org/jhi/article/...
Sudhir Gupta, Raphaela Goldbach-Mansky & Ivona Aksentijevich pay tribute to the founder of the field of autoinflammatory diseases, an extraordinary translational investigator, a dedicated mentor, & a compassionate physician. rupress.org/jhi/article/...
Taniguchi et al. find the prevalence of #autoantibodies neutralizing type I IFNs is significantly higher in Japanese patients w/ #hepatitis C (2.7%) than in age-matched healthy controls (0.7%), and is even higher in those treated w/ IFN-α than in untreated individuals. rupress.org/jhi/article/...
September 16, 2026 at 4:00 PM
Taniguchi et al. find the prevalence of #autoantibodies neutralizing type I IFNs is significantly higher in Japanese patients w/ #hepatitis C (2.7%) than in age-matched healthy controls (0.7%), and is even higher in those treated w/ IFN-α than in untreated individuals. rupress.org/jhi/article/...
Tomomasa et al. describe a clustering of patients w/ IRAK4 deficiency identified in Okinawa, Japan. All affected families carried the homozygous c.123_124insA variant, which suggests a founder effect & supports the implementation of newborn screening for IRAK4 deficiency rupress.org/jhi/article/...
September 15, 2026 at 4:01 PM
Tomomasa et al. describe a clustering of patients w/ IRAK4 deficiency identified in Okinawa, Japan. All affected families carried the homozygous c.123_124insA variant, which suggests a founder effect & supports the implementation of newborn screening for IRAK4 deficiency rupress.org/jhi/article/...
Linkage between HLA-B8 and HLA-DQ2.5 contributes to ancestry-dependent risk for #celiacdisease. New study from Xin Long, Xiao-Fei Kong (University of Texas Southwestern) and colleagues:
rupress.org/jhi/article/...
#Diagnostics #Autoimmunity
rupress.org/jhi/article/...
#Diagnostics #Autoimmunity
September 15, 2026 at 3:15 PM
Linkage between HLA-B8 and HLA-DQ2.5 contributes to ancestry-dependent risk for #celiacdisease. New study from Xin Long, Xiao-Fei Kong (University of Texas Southwestern) and colleagues:
rupress.org/jhi/article/...
#Diagnostics #Autoimmunity
rupress.org/jhi/article/...
#Diagnostics #Autoimmunity
ER #proteostasis failure in HYOU1 deficiency alters #Bcells, #neutrophils, and #interferon signaling. New study from Aida Idani, Raphael Carapito, Seiamak Bahram @seiamak.bsky.social @unistra.fr and colleagues:
rupress.org/jhi/article/...
#InbornErrorsOfImmunity
rupress.org/jhi/article/...
#InbornErrorsOfImmunity
September 15, 2026 at 1:45 PM
ER #proteostasis failure in HYOU1 deficiency alters #Bcells, #neutrophils, and #interferon signaling. New study from Aida Idani, Raphael Carapito, Seiamak Bahram @seiamak.bsky.social @unistra.fr and colleagues:
rupress.org/jhi/article/...
#InbornErrorsOfImmunity
rupress.org/jhi/article/...
#InbornErrorsOfImmunity
Dr. Daniel Kastner, former NHGRI Scientific Director, was a visionary physician-scientist whose discoveries transformed the understanding of innate immunity and established the modern field of autoinflammatory diseases. Gupta, Goldbach-Mansk & Aksentijevich pay tribute: rupress.org/jhi/article/...
September 11, 2026 at 4:00 PM
Dr. Daniel Kastner, former NHGRI Scientific Director, was a visionary physician-scientist whose discoveries transformed the understanding of innate immunity and established the modern field of autoinflammatory diseases. Gupta, Goldbach-Mansk & Aksentijevich pay tribute: rupress.org/jhi/article/...
Base editing reversal of radiation sensitivity in NHEJ1 #immunodeficiency. New study from Renuka Kadirkamanathan, Roland Preece, Waseem Qasim (Zayed Centre for Research @greatormondst.bsky.social) and colleagues:
rupress.org/jhi/article/...
#Diagnostics #InbornErrorsOfImmunity #immunodeficiencies
rupress.org/jhi/article/...
#Diagnostics #InbornErrorsOfImmunity #immunodeficiencies
September 10, 2026 at 1:45 PM
Base editing reversal of radiation sensitivity in NHEJ1 #immunodeficiency. New study from Renuka Kadirkamanathan, Roland Preece, Waseem Qasim (Zayed Centre for Research @greatormondst.bsky.social) and colleagues:
rupress.org/jhi/article/...
#Diagnostics #InbornErrorsOfImmunity #immunodeficiencies
rupress.org/jhi/article/...
#Diagnostics #InbornErrorsOfImmunity #immunodeficiencies
HLA-DQ2.5, the major genetic risk for #celiacdisease, is present across diverse populations. Xin Long et al. from the Kong lab (UT Southwestern) show that its linkage with HLA-B8 varies by genetic ancestry and contributes to differences in disease prevalence. rupress.org/jhi/article/...
September 8, 2026 at 4:45 PM
HLA-DQ2.5, the major genetic risk for #celiacdisease, is present across diverse populations. Xin Long et al. from the Kong lab (UT Southwestern) show that its linkage with HLA-B8 varies by genetic ancestry and contributes to differences in disease prevalence. rupress.org/jhi/article/...
HYOU1 deficiency links ER #proteostasis failure to human #immunodeficiency. Idani, Carapito, @seiamak.bsky.social et al. identify defective B-cell development, persistent #neutrophil abnormalities, & #interferon pathway dysregulation as key disease mechanisms. rupress.org/jhi/article/...
September 8, 2026 at 4:00 PM
HYOU1 deficiency links ER #proteostasis failure to human #immunodeficiency. Idani, Carapito, @seiamak.bsky.social et al. identify defective B-cell development, persistent #neutrophil abnormalities, & #interferon pathway dysregulation as key disease mechanisms. rupress.org/jhi/article/...
The clinical utility of #exome sequencing for risk stratification in #CeliacDisease. New study from Talha Asif, Xiao-Fei Kong (University of Texas Southwestern Medical Center) and colleagues:
rupress.org/jhi/article/...
#Autoimmunity #Diagnostics
rupress.org/jhi/article/...
#Autoimmunity #Diagnostics
September 8, 2026 at 2:30 PM
The clinical utility of #exome sequencing for risk stratification in #CeliacDisease. New study from Talha Asif, Xiao-Fei Kong (University of Texas Southwestern Medical Center) and colleagues:
rupress.org/jhi/article/...
#Autoimmunity #Diagnostics
rupress.org/jhi/article/...
#Autoimmunity #Diagnostics
Prevalence of neutralizing #autoantibodies against type I #interferon in #dengue patients. New study from Mengtian Yang, Yixin Liao, Feng Li, Haisheng Yu (Guangzhou Medical University), Yun Ling (Fudan University) and colleagues:
rupress.org/jhi/article/...
#Infections
rupress.org/jhi/article/...
#Infections
September 8, 2026 at 1:30 PM
Prevalence of neutralizing #autoantibodies against type I #interferon in #dengue patients. New study from Mengtian Yang, Yixin Liao, Feng Li, Haisheng Yu (Guangzhou Medical University), Yun Ling (Fudan University) and colleagues:
rupress.org/jhi/article/...
#Infections
rupress.org/jhi/article/...
#Infections
Temporal windowing of recurrent sinusitis improves EHR-based #immunodeficiency classification. New study from Aaron T Chin (UCLA) and colleagues:
rupress.org/jhi/article/...
#IEIs #Phenocopies #ClinicalPhenotypes #Diagnostics
rupress.org/jhi/article/...
#IEIs #Phenocopies #ClinicalPhenotypes #Diagnostics
September 7, 2026 at 7:30 PM
Temporal windowing of recurrent sinusitis improves EHR-based #immunodeficiency classification. New study from Aaron T Chin (UCLA) and colleagues:
rupress.org/jhi/article/...
#IEIs #Phenocopies #ClinicalPhenotypes #Diagnostics
rupress.org/jhi/article/...
#IEIs #Phenocopies #ClinicalPhenotypes #Diagnostics
Our September cover (rupress.org/jhi/issue/2/5) shows flow-cytometric characterization of TCR Vδ2 cells from two healthy controls and a patient carrying a TCRγδ-specific somatic STAT5B gain-of-function mutation based on expression of 10 different surface markers.
Meyer et al. doi.org/10.70962/jhi...
Meyer et al. doi.org/10.70962/jhi...
September 7, 2026 at 2:02 PM
Our September cover (rupress.org/jhi/issue/2/5) shows flow-cytometric characterization of TCR Vδ2 cells from two healthy controls and a patient carrying a TCRγδ-specific somatic STAT5B gain-of-function mutation based on expression of 10 different surface markers.
Meyer et al. doi.org/10.70962/jhi...
Meyer et al. doi.org/10.70962/jhi...
Ureaplasma parvum septic arthritis in LRBA deficiency: An infectious mimic of autoimmune #arthritis. New report from Katrien Timmermans, Leslie Naesens and colleagues (Ghent University Hospital):
rupress.org/jhi/article/...
#Diagnostics #Autoimmunity
rupress.org/jhi/article/...
#Diagnostics #Autoimmunity
September 4, 2026 at 1:45 PM
Ureaplasma parvum septic arthritis in LRBA deficiency: An infectious mimic of autoimmune #arthritis. New report from Katrien Timmermans, Leslie Naesens and colleagues (Ghent University Hospital):
rupress.org/jhi/article/...
#Diagnostics #Autoimmunity
rupress.org/jhi/article/...
#Diagnostics #Autoimmunity
Kadirkamanathan et al. use base editors to modify DNA sequences in order to study newly identified mutations, or those of unknown significance, that may be responsible for inherited errors in the cutting & joining of DNA during immune cell development rupress.org/jhi/article/...
#IEIs
#IEIs
September 3, 2026 at 4:00 PM
Kadirkamanathan et al. use base editors to modify DNA sequences in order to study newly identified mutations, or those of unknown significance, that may be responsible for inherited errors in the cutting & joining of DNA during immune cell development rupress.org/jhi/article/...
#IEIs
#IEIs
Iterative genetic testing identifies SAMHD1 deficiency caused by a homozygous balanced translocation. New study from Paul Baker @pauljbaker.bsky.social, Seth Masters @sethlucianmasters.bsky.social and colleagues @hudsonresearch.bsky.social @monashuniversity.bsky.social:
rupress.org/jhi/article/...
rupress.org/jhi/article/...
September 2, 2026 at 1:30 PM
Iterative genetic testing identifies SAMHD1 deficiency caused by a homozygous balanced translocation. New study from Paul Baker @pauljbaker.bsky.social, Seth Masters @sethlucianmasters.bsky.social and colleagues @hudsonresearch.bsky.social @monashuniversity.bsky.social:
rupress.org/jhi/article/...
rupress.org/jhi/article/...
#STAT1 gain-of-function variant in a previously healthy patient with disseminated Mycobacterium genavense infection. New study from Kavitha Thiagarajan, Huan Vinh Dong, Karin Nielsen-Saines (University of California, Los Angeles) and colleagues:
rupress.org/jhi/article/...
#InbornErrorsOfImmunity
rupress.org/jhi/article/...
#InbornErrorsOfImmunity
September 1, 2026 at 8:30 PM
#STAT1 gain-of-function variant in a previously healthy patient with disseminated Mycobacterium genavense infection. New study from Kavitha Thiagarajan, Huan Vinh Dong, Karin Nielsen-Saines (University of California, Los Angeles) and colleagues:
rupress.org/jhi/article/...
#InbornErrorsOfImmunity
rupress.org/jhi/article/...
#InbornErrorsOfImmunity
#Exome sequencing can stratify the genetic risk of #CeliacDisease among first-degree relatives of affected individuals. A study from Talha Asif, Xiao-Fei Kong et al. (UT Southwestern) finds that about 10% of first-degree relatives carry a particularly high genetic risk. rupress.org/jhi/article/...
September 1, 2026 at 4:45 PM
#Exome sequencing can stratify the genetic risk of #CeliacDisease among first-degree relatives of affected individuals. A study from Talha Asif, Xiao-Fei Kong et al. (UT Southwestern) finds that about 10% of first-degree relatives carry a particularly high genetic risk. rupress.org/jhi/article/...
The presence of type I IFN-neutralizing antibodies (NAbs) is a life-threatening risk factor for multiple infectious diseases. Yang and Liao et al. report the prevalence of NAbs in #dengue patients & indicates that patients w/ NAbs may have a higher risk of cardiac injury. rupress.org/jhi/article/...
September 1, 2026 at 4:00 PM
The presence of type I IFN-neutralizing antibodies (NAbs) is a life-threatening risk factor for multiple infectious diseases. Yang and Liao et al. report the prevalence of NAbs in #dengue patients & indicates that patients w/ NAbs may have a higher risk of cardiac injury. rupress.org/jhi/article/...
Reposted by Journal of Human Immunity
We all know recurrent infections is a hallmark of many primary immunodeficiencies, but what really is "recurrent"? In the electronic health record, recurrence is far from obvious. Aaron figured out a way to tease recurrence from the data. The impact is finding immune deficiency patients sooner. #IEI
Aaron T. Chin et al. develop a temporal windowing methodology that groups recurrent sinusitis encounters into discrete episodes in electronic health records and improves #immunodeficiency classification. rupress.org/jhi/article/...
#IEIs #Phenocopies #ClinicalPhenotypes #Diagnostics
#IEIs #Phenocopies #ClinicalPhenotypes #Diagnostics
August 31, 2026 at 7:22 PM
We all know recurrent infections is a hallmark of many primary immunodeficiencies, but what really is "recurrent"? In the electronic health record, recurrence is far from obvious. Aaron figured out a way to tease recurrence from the data. The impact is finding immune deficiency patients sooner. #IEI
Aaron T. Chin et al. develop a temporal windowing methodology that groups recurrent sinusitis encounters into discrete episodes in electronic health records and improves #immunodeficiency classification. rupress.org/jhi/article/...
#IEIs #Phenocopies #ClinicalPhenotypes #Diagnostics
#IEIs #Phenocopies #ClinicalPhenotypes #Diagnostics
August 31, 2026 at 4:02 PM
Aaron T. Chin et al. develop a temporal windowing methodology that groups recurrent sinusitis encounters into discrete episodes in electronic health records and improves #immunodeficiency classification. rupress.org/jhi/article/...
#IEIs #Phenocopies #ClinicalPhenotypes #Diagnostics
#IEIs #Phenocopies #ClinicalPhenotypes #Diagnostics
Katrien Timmermans, Leslie Naesens et al. report culture-negative septic #arthritis caused by Ureaplasma parvum in a patient with LRBA deficiency, mimicking autoimmune disease. rupress.org/jhi/article/...
#Diagnostics #Autoimmunity
#Diagnostics #Autoimmunity
August 28, 2026 at 3:30 PM
Katrien Timmermans, Leslie Naesens et al. report culture-negative septic #arthritis caused by Ureaplasma parvum in a patient with LRBA deficiency, mimicking autoimmune disease. rupress.org/jhi/article/...
#Diagnostics #Autoimmunity
#Diagnostics #Autoimmunity
🔔 We're delighted to share the Abstracts from the Serbian Group for Primary Immunodeficiencies (SGPI)'s 2nd symposium, which took place April 24-25. Explore the latest advancements in #PID clinical practice and research!
👉 rupress.org/jhi/issue/2/...
👉 rupress.org/jhi/issue/2/...
August 26, 2026 at 8:30 PM
🔔 We're delighted to share the Abstracts from the Serbian Group for Primary Immunodeficiencies (SGPI)'s 2nd symposium, which took place April 24-25. Explore the latest advancements in #PID clinical practice and research!
👉 rupress.org/jhi/issue/2/...
👉 rupress.org/jhi/issue/2/...