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Journal of Human Immunity

@jhumimmunity.org
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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 @jhumimmunity.org · 3h
Sbruzzi, Vianna et al. show that neutralizing #autoantibodies against type I IFNs are more frequent in severe, critical, and fatal #COVID19 cases in southern Brazil, highlighting their role in disease severity and extending global evidence to a Latin American population. rupress.org/jhi/article/...
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Journal of Human Immunity @jhumimmunity.org · 05/10/2026
#HowITreat from Joseph Oved: In primary immune regulatory diseases and inflammatory disorders, targeted immune modulation may control symptoms for some, but alloHCT remains the only cure for many patients. rupress.org/jhi/article/... #Infections #autoantibodies
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Journal of Human Immunity @jhumimmunity.org · 01/10/2026
Swamy, Gray, Tangye et al. describe an Australian/New Zealand cohort where identification of monogenic #InbornErrorsOfImmunity through next-generation sequencing resulted in management change in 84% of cases including guiding #HSCT and initiating targeted treatment. rupress.org/jhi/article/...
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Journal of Human Immunity @jhumimmunity.org · 01/10/2026
Mosaic #TLR8 gain-of-function in an elderly female treated with JAK inhibitor and adjunctive therapy. New report from Jenny A. Patel, Megan A. Cooper @macattacklab.bsky.social, Ofer Zimmerman and colleagues @washumedicine.bsky.social: rupress.org/jhi/article/... #InbornErrorsOfImmunity
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Journal of Human Immunity @jhumimmunity.org · 29/09/2026
A fatal case of #Aspergillus #endocarditis in a pediatric patient with STING-associated vasculopathy. New report from Ambre Dethier, Bénédicte Neven @upcite.bsky.social et al.: rupress.org/jhi/article/... #InfectiousDiseases #PopulationGenetics #InbornErrorsOfImmunity #Autoinflammation #SAVI
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Journal of Human Immunity @jhumimmunity.org · 25/09/2026
Skin biopsy in adult-onset Still's disease: A specific, rapid, and widely available diagnostic test. New study by Derrick H.Y. Chong, Luke Y.C. Chen (University of British Columbia) and colleagues: rupress.org/jhi/article/... #Autoinflammation #cytokines #AOSD
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Journal of Human Immunity @jhumimmunity.org · 25/09/2026
Human inborn errors of the phagocyte respiratory burst: chronic granulomatous disease and beyond. New review from Anna-Lena Neehus @alneehus.bsky.social, Vijay G. Sankaran @bloodgenes.bsky.social, Jean-Laurent Casanova @casanovalab.bsky.social, and Jacinta Bustamante: rupress.org/jhi/article/...
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Journal of Human Immunity @jhumimmunity.org · 24/09/2026
Patel, @macattacklab.bsky.social, Zimmerman et al. describe an elderly woman w/ severe chronic #neutropenia caused by mosaic #TLR8 GOF, broadening a primarily pediatric, male disease spectrum & highlighting somatic mosaicism as an important diagnostic consideration rupress.org/jhi/article/...
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Journal of Human Immunity @jhumimmunity.org · 23/09/2026
High prevalence of #autoantibodies neutralizing type I IFNs in Japanese patients with #hepatitis C. New study from Maki Taniguchi, Satoshi Okada and colleagues (Hiroshima University): rupress.org/jhi/article/... #Autoimmunity #Infections #InbornErrorsOfImmunity
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Journal of Human Immunity @jhumimmunity.org · 22/09/2026
Dethier et al. describe a young girl with #SAVI on prolonged JAK inhibitors who developed fatal #Aspergillus #endocarditis. This report illustrates the major therapeutic challenges in #STING1 gain-of-function disorders due to their intrinsic immunological abnormalities. rupress.org/jhi/article/...
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Journal of Human Immunity @jhumimmunity.org · 22/09/2026
A possible founder IRAK4 variant in Okinawa, Japan. New report from Dan Tomomasa, Hirokazu Kanegane (Institute of Science Tokyo) and colleagues: rupress.org/jhi/article/... #InfectiousDiseases #PopulationGenetics #InbornErrorsOfImmunity
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Journal of Human Immunity @jhumimmunity.org · 18/09/2026
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/...
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Journal of Human Immunity @jhumimmunity.org · 18/09/2026
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/...
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Journal of Human Immunity @jhumimmunity.org · 18/09/2026
#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/...
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Journal of Human Immunity @jhumimmunity.org · 16/09/2026
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/...
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Journal of Human Immunity @jhumimmunity.org · 15/09/2026
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/...
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Journal of Human Immunity @jhumimmunity.org · 15/09/2026
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
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Journal of Human Immunity @jhumimmunity.org · 15/09/2026
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
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Journal of Human Immunity @jhumimmunity.org · 11/09/2026
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/...
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Journal of Human Immunity @jhumimmunity.org · 10/09/2026
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
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Journal of Human Immunity @jhumimmunity.org · 08/09/2026
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/...
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Journal of Human Immunity @jhumimmunity.org · 08/09/2026
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/...
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Journal of Human Immunity @jhumimmunity.org · 08/09/2026
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
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Journal of Human Immunity @jhumimmunity.org · 08/09/2026
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
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Journal of Human Immunity @jhumimmunity.org · 07/09/2026
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
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Journal of Human Immunity @jhumimmunity.org · 07/09/2026
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...
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Journal of Human Immunity @jhumimmunity.org · 04/09/2026
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
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Journal of Human Immunity @jhumimmunity.org · 03/09/2026
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
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Journal of Human Immunity @jhumimmunity.org · 02/09/2026
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/...
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Journal of Human Immunity @jhumimmunity.org · 01/09/2026
#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
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Journal of Human Immunity @jhumimmunity.org · 01/09/2026
#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/...
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Journal of Human Immunity @jhumimmunity.org · 01/09/2026
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/...
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Journal of Human Immunity @jhumimmunity.org · 31/08/2026
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
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Journal of Human Immunity @jhumimmunity.org · 28/08/2026
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
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Journal of Human Immunity @jhumimmunity.org · 26/08/2026
🔔 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/...
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Journal of Human Immunity @jhumimmunity.org · 26/08/2026
@pauljbaker.bsky.social, @sethlucianmasters.bsky.social et al. identify a 13-year-old male with complex symptoms including those consistent with familial chilblain lupus. This inborn error of immunity is due to a genomic translocation resulting in SAMHD1 deficiency rupress.org/jhi/article/...
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Journal of Human Immunity @jhumimmunity.org · 26/08/2026
Autosomal recessive OSMRβ deficiency: connecting OSM and/or IL-31 with #atopy. Anne Puel, @casanovalab.bsky.social, and Vivien Béziat discuss two studies by Andersen et al. (rupress.org/jhi/article/...), and @turveylab.bsky.social: (rupress.org/jhi/article/...): rupress.org/jhi/article/...
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Journal of Human Immunity @jhumimmunity.org · 25/08/2026
#STAT1 defects present with diverse clinical phenotypes. Thiagarajan, Dong, Nielsen-Saines et al. describe an unusual genotype/phenotype: disseminated mycobacterial infection without CMC in the context of a pathogenic STAT1 GOF variant (p.Lys388Glu). rupress.org/jhi/article/... #Mycobacteria
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Journal of Human Immunity @jhumimmunity.org · 24/08/2026
Nationwide TREC/KREC-based newborn screening and clinical outcomes in Japan. New study from Tsubasa Nishinosono, Hideki Muramatsu (Nagoya University), Kohsuke Imai (Japanese Society for Immunodeficiency and Autoinflammatory Diseases) & colleagues rupress.org/jhi/article/... #InbornErrorsOfImmunity
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Journal of Human Immunity @jhumimmunity.org · 20/08/2026
🔔 We're delighted to share the Abstracts from the Serbian Group for Primary Immunodeficiencies (SGPI)'s 2nd symposium, which took place April 24-25 in Belgrade and Novi Sad, Serbia. Explore the latest advancements in #PID clinical practice and research! 👉 rupress.org/jhi/issue/2/...
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Journal of Human Immunity @jhumimmunity.org · 19/08/2026
Puel, @casanovalab.bsky.social & Béziat discuss two studies reporting autosomal recessive OSMRβ deficiency as a new inborn error of immunity marked by severe #atopy, hyper-IgE, & #eosinophilia, thereby refining the genetic dissection of #STAT3-dependent hyper-IgE syndrome rupress.org/jhi/article/...
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Journal of Human Immunity @jhumimmunity.org · 17/08/2026
Multidisciplinary genomic evaluation reveals adult inborn errors of immunity with rheumatic features. New study from Hiroyuki Baba, Tadashi Hosoya, Shinsuke Yasuda and colleagues (Institute of Science Tokyo): rupress.org/jhi/article/... #Diagnostics #InbornErrorsOfImmunity #Rheumatology
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Journal of Human Immunity @jhumimmunity.org · 17/08/2026
Nishinosono, Muramatsu, Imai et al. show that nationwide TREC/KREC newborn screening in Japan demonstrates that large-scale programs can achieve favorable outcomes while revealing practical implementation challenges. rupress.org/jhi/article/... #Diagnostics #InbornErrorsOfImmunity
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Journal of Human Immunity @jhumimmunity.org · 17/08/2026
TCR γδ cell–specific STAT5 gain of function induces a druggable chronic human immune dysregulation. New study from Benedikt J. Meyer, José Pedro Loureiro, Mike Recher and colleagues @biomedizin.unibas.ch @unibas.ch: rupress.org/jhi/article/... #IEIs #InbornErrorsOfImmunity
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Journal of Human Immunity @jhumimmunity.org · 10/08/2026
Hidden #InbornErrorsOfImmunity (#IEIs) found in adults with atypical rheumatic diseases. Baba et al. show that genetic testing diagnosed IEIs in 30% of suspected cases, enabling precision-targeted therapies. Early genomic screening is key. rupress.org/jhi/article/... #RMD #Rheumatology
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Journal of Human Immunity @jhumimmunity.org · 10/08/2026
Meyer, Loureiro, Recher et al. @biomedizin.unibas.ch identify a TCR γδ cell-specific STAT5 gain of function mutation in patients with a unique chronic human immune dysregulation that alters the T cell differentiation program and is specifically druggable. rupress.org/jhi/article/... #IEIs
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Journal of Human Immunity @jhumimmunity.org · 10/08/2026
Adenosine deaminase type 2 deficiency: from rare to common. New review from Marjon Wouters, Ivona Aksentijevich, Isabelle Meyts @isabellemeyts.bsky.social (KU Leuven) and colleagues: rupress.org/jhi/article/... #InbornErrorsOfImmunity #Autoinflammation
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Journal of Human Immunity @jhumimmunity.org · 10/08/2026
Clinical, genetic, and immunologic features of APS-1 patients from the Middle East, and a review of the literature. New study from Elsa Lamah, Michel J. Massaad (American University of Beirut) and colleagues: rupress.org/jhi/article/... #Autoimmunity #InbornErrorsOfImmunity #ClinicalPhenotypes
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Journal of Human Immunity @jhumimmunity.org · 06/08/2026
A novel ZNF699 mutation in a patient with DEGCAGS syndrome and severe B cell depletion. New report from Giuliana Giardino, Giuseppe Merla (University of Naples Federico II) and colleagues: rupress.org/jhi/article/... #InbornErrorsOfImmunity
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Journal of Human Immunity @jhumimmunity.org · 05/08/2026
#FOXP3 deep intronic variant underlying #IPEX. New report from Pierre Gaufryau, Marie-Claude Stolzenberg, Jérémie Rosain @jrosain.bsky.social et al. @hopitalnecker.bsky.social @institutimagine.bsky.social: rupress.org/jhi/article/... #Atopy #Diagnostics #Autoimmunity #InbornErrorsOfImmunity
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