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Journal of Human Immunity @jhumimmunity.org · 4h

Galli, Recher et al. @unibas.ch describe two patients with hypogammaglobulinemia associated with #MyotonicDystrophy type 1 (DM1), a rare and underdiagnosed monogenic neuromuscular disorder and provide clues to aid clinical immunologists in making a correct diagnosis. rupress.org/jhi/article/...

rupress.org

Antibody deficiency in myotonic dystrophy type 1: A differential diagnosis below the radar

Galli, Recher et al. describe two patients with hypogammaglobulinemia associated with myotonic dystrophy type 1 (DM1), a rare and underdiagnosed monogenic

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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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Megan Cooper @macattacklab.bsky.social · 25/09/2026

A pleasure to work with Ofer Zimmerman & @washumedicine.bsky.social heme to make the diagnosis in this adult woman who had symptoms for two decades. TLR8 GOF is X linked DOMINANT -males & females. Our original cohorts were younger (I’m a pediatrician!) there are more older adults out there

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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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Manish Butte @manishbutte.bsky.social · 31/08/2026

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

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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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Reposted by Journal of Human Immunity

Turvey Lab @turveylab.bsky.social · 21/08/2026

Thank you, Anne, Jean-Laurent, and Vivien, for this wonderful News & Views, and congratulations to Trine Mogensen and colleagues on their complementary study. It's exciting to see independent discoveries establish OSMRβ deficiency as a new inborn error of immunity. @casanovalab.bsky.social

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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 · 19/08/2026

#STAT1 gain-of-function mutations cause chronic mucocutaneous #candidiasis and broad immune dysregulation, yet African data are limited. In a Moroccan cohort, Bouchra Baghad et al. describe clinical and genetic features of 12 patients. rupress.org/jhi/article/... #InbornErrorsOfImmunity

rupress.org

STAT1 gain-of-function in 12 Moroccan patients: Clinical and genetic insights

STAT1 gain-of-function mutations cause chronic mucocutaneous candidiasis and broad immune dysregulation, yet African data are limited. In a Moroccan cohort

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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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Department of Biomedicine🔬🧪 @biomedizin.unibas.ch · 11/08/2026

A patient's search for answers led to the discovery of a new type of immune disorder Researchers identified a mosaic mutation affecting only a specific subgroup of immune cells, opening new possibilities for precision diagnosis and targeted treatment for patients with unexplained immune disorders.

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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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