APS-1 in the Middle East ! Clinical, genetic, and immunologic features of APS-1 patients from the Middle East, and a review of the literature rupress.org/jhi/article/...

Clinical, genetic, and immunologic features of APS-1 patients from the Middle East, and a review of the literature

The authors identify three novel mutations in AIRE and detect T cell defects in patients with APS-1. Furthermore, they review the literature and identify a

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A superb review: Adenosine deaminase type 2 deficiency: From rare to common rupress.org/jhi/article/...

Adenosine deaminase type 2 deficiency: From rare to common

Wouters et al. review the clinical and genetic landscape of DADA2, a multisystem inborn error of immunity. It examines expanding phenotypes, emerging patho

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Lamah, Massaad et al. identify three novel mutations in AIRE and detect T cell defects in patients with APS-1. Furthermore, they review the literature and identify additional clinical features, and define mutational hotspots suitable for targeted sequencing rupress.org/jhi/article/... #Autoimmunity

In @jhumimmunity.org, Lamah et al. identify three novel mutations in AIRE and detect T cell defects in patients with APS-1. Furthermore, they review the literature and identify additional clinical features, and define mutational hotspots suitable for targeted sequencing rupress.org/jhi/article/...

In a new @jhumimmunity.org review on DADA2, Wouters et al. cover the full spectrum of disease (#vasculitis, bone marrow failure, #immunodeficiency), TNF inhibitors, stem cell transplant, & #genetherapy on the horizon, the concept that a single variant can cause disease. rupress.org/jhi/article/...

How I Treat: Diagnostic clues and treatment for activated phosphoinositide 3-kinase delta syndrome. Hirokazu Kanegane @sciencetokyo_en, Dan Tomomasa, and Satoshi Okada propose “10 Warning Signs of APDS” for the early clinical detection of APDS: rupress.org/jhi/article/... #HowITreat #IEIs

The importance of tailored conditioning for hematopoietic stem cell transplantation in children with Mendelian susceptibility to mycobacterial disease: A tale of two pathways for IFN-γ and IL-12 defects. From Kavitha Ganesan et al. (Apollo Hospitals India): #InbornErrorsofImmunity #Mycobacteria

1/ We are thrilled to share our new study on the risk of hypoxemic COVID-19 pneumonia in Myasthenia Gravis (MG) patients with autoantibodies (auto-Abs) neutralizing type I IFNs in @pnas.org. www.pnas.org/doi/10.1073/...

Australasian Society of Clinical Immunology and Allergy consensus statement on IEI molecular diagnosis. New Perspective from Tatiane Yanes, Peter McNaughton (Queensland Children’s Hospital) and colleagues: rupress.org/jhi/article/... #IEIs #InbornErrorsOfImmunity

In this first randomized, placebo-controlled trial by Toshinao Kawai et al., #thalidomide demonstrated potential efficacy and acceptable safety in patients aged 1 year or older with chronic granulomatous disease–related inflammatory bowel disease. rupress.org/jhi/article/... #CGD #IBD #IEIs

🌐 All Journal of Human Immunity (JHI) articles are now discoverable on #PubMed and PubMed Central. Authors benefit from immediate, zero-embargo access under a CC-BY license, plus links directly back to the version of record. Learn more about publishing with JHI. 👉 rupress.org/jhi/pages/pm...

Publishing in JHI enables authors funded by National Institutes of Health (NIH), Howard Hughes Medical Institute (HHMI), and other funders an easy pathway to compliance. Learn more: 👉 rupress.org/pages/nih-hh...

O’Connell, @bogunoviclab.bsky.social et al show that, in a neonate with a DOCK11 variant of uncertain significance, negative functional studies guide clinical care, highlighting the broader value of publishing instructive negative findings in immunology & genomic medicine rupress.org/jhi/article/...

Kienapfel, Meyts, Bucciol et al. report the characterization of two novel mutations underlying #STAT2 deficiency in three patients with viral infections & hyperinflammation following live viral vaccines. Beneficial use of ruxolinitib in one patient is also reported. rupress.org/jhi/article/... #IEIs

#Thalidomide for #CGD-related inflammatory bowel disease: A randomized, double-blind trial. New study from Toshinao Kawai and colleagues (National Center for Child Health and Development, Tokyo): rupress.org/jhi/article/... #InbornErrorsOfImmunity #PhagocyticDeficiencies #Therapeutics #IBD

Our July issue is here! rupress.org/jhi/issue/2/4 This cover highlights the first human biallelic OSMR deficiency. @turveylab.bsky.social et al. show that OSMR deficiency disrupts OSM-STAT signaling, driving severe early-onset #eczema, #eosinophilia, and elevated IgE. doi.org/10.70962/jhi...

Functional studies in a neonate with a DOCK11 VUS guide clinical care. New research letter from Patrick O’Connell, Dusan Bogunovic @bogunoviclab.bsky.social and colleagues @sinaigenetics.bsky.social @columbiamed.bsky.social: rupress.org/jhi/article/... #Autoinflammation #Diagnostics

Two novel kindreds with autosomal recessive STAT2 deficiency. New study from Verena Kienapfel, Isabelle Meyts, Giorgia Bucciol (KU Leuven) and colleagues: rupress.org/jhi/article/... #InbornErrorsOfImmunity

Autosomal recessive #CGD represents a significant disease in the Middle East and North Africa region associated with significant morbidity and mortality. Addressing regional challenges, in prevention, diagnosis and managment is essential to compact the disease. rupress.org/jhi/article/... #IEIs

In a #PIDTC cohort of 796 patients, Black patients with #SCID had >2× higher hazard of death after non-sibling HCT. #NewbornScreening eliminated these #disparities. Early detection saves lives and promotes #healthequity. From Winestone, Haddad et al.: rupress.org/jhi/article/...

🌐 Journal of Human Immunity (JHI), the official journal of #IAPIDS and published by Rockefeller University Press @rupress.org, is now indexed in #PubMed and PubMed Central. Explore the dedicated research on human inborn errors of immunity #IEIs: 👉 rupress.org/jhi/pages/pm...

@theebmt.bsky.social

Chronic granulomatous disease: A multicenter study from the MENA region. New study from Salem Al-Tamemi (Sultan Qaboos University, Oman) and colleagues: rupress.org/jhi/article/... #CGD

Newborn screening reduces survival disparities in #SCID after stem cell transplant: A #PIDTC report. New study from Lena E. Winestone @ucsfchildrens.bsky.social, Elie Haddad @chusaintejustine.bsky.social and colleagues: rupress.org/jhi/article/... #Diagnostics #InbornErrorsOfImmunity

🔔 We're delighted to share the Abstracts from the Primary Immune Deficiency Treatment Consortium #PIDTC (@pidtc.bsky.social) Annual Workshop which took place this March in Salt Lake City. Explore the latest advancements in #PID clinical practice and research! 👉 rupress.org/jhi/issue/2/...

TTC7A deficiency: A retrospective international study on treatment and outcomes from the Inborn Errors Working Party of EBMT. From Giulia Prunotto, Giovanna Lucchini (IRCCS San Gerardo dei Tintori) and colleagues: rupress.org/jhi/article/... @theebmt.bsky.social #InbornErrorsOfImmunity

#DownSyndrome is characterized by lifelong immune dysregulation. In this review, Melissa Gans, Joaquin Espinosa and colleagues describe clinical considerations toward monitoring, management, and therapeutic opportunities. rupress.org/jhi/article/... #InbornErrorsOfImmunity #Therapeutics

Duintjer, van der Burg et al. demonstrate that second-tier genetics improves newborn screening accuracy for #SCID and other T cell deficiencies. A safety net algorithm maintains high sensitivity for SCID while substantially increasing the PPV from 22.1% to 55.2%. rupress.org/jhi/article/...

New review from Stephen Jolles et al. considers the utility of calculated globulin as an unbiased and inexpensive screening tool for #immunodeficiency. The benefits and practicalities of its clinical implementation and current challenges and limitations are discussed. rupress.org/jhi/article/...

🌐 Following successful technical and scientific reviews, Journal of Human Immunity (JHI) content is now fully discoverable on #PubMed Central. Read our #OpenAccess back catalog and future issues here: 👉 pmc.ncbi.nlm.nih.gov/search/?term... Read the announcement: 👉 rupress.org/jhi/pages/pm...