🌐 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...

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/...

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/...

#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

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

🔔 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/...

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

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

Prunotto, Lucchini et al. describe clinical presentation, immunological status, treatment, & long-term outcomes of a large cohort of pediatric and adult patients affected by an extremely complex and rare immunodeficiency known as #TTC7A deficiency. rupress.org/jhi/article/... #InbornErrorsOfImmunity

🌐 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...

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/...

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

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

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

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...

#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

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

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...

🌐 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...

ADA2 genotype and enzyme activity may predict vasculitic or hematologic DADA2 phenotype. New study from Philipp Peters, Fabian Hauck @lmu.de and colleagues: rupress.org/jhi/article/... #ImmunologicalPhenotypes #Autoinflammation #InbornErrorsOfImmunity

The burden of severe leukocyte adhesion deficiency, type I (LAD-I): A multiple-case study from the caregiver’s perspective. New study from Meaghan O’Connor (IQVIA), Maria Chitty Lopez (Rocket Pharmaceuticals) and colleagues: rupress.org/jhi/article/... #IEIs #InbornErrorsOfImmunity

A homozygous #CTLA4 variant causes CTLA-4 deficiency with severe immune dysregulation. New study from Mehmet Cihangir Catak, Bernice Lo (Sidra Medicine, Doha), Safa Baris (Marmara University, Istanbul) and colleagues: rupress.org/jhi/article/... #Diagnostics #Therapeutics #Autoimmunity

🌐 Journal of Human Immunity (JHI) is now officially indexed in #PubMed Central and PubMed. This includes all future papers and the complete back catalog dating back to our first issue. Read the full announcement and explore the journal here: rupress.org/jhi/pages/pm...

🔔 We're delighted to share the Abstracts from the 9th Scientific Meeting of the Japanese Society for Immunodeficiency & Autoinflammatory Diseases (JSIAD), which took place Feb. 14–15, 2026, in Sendai. Explore the latest advancements in #IEIs clinical practice & research 👉 rupress.org/jhi/issue/2/...

How I Treat: #STAT3 hyper IgE syndrome. Clinical management guidelines proposed by Cliodhna Murray, Eyad Jannoud, Seraina Prader, and Bodo Grimbacher @uni-freiburg.de: rupress.org/jhi/article/... #HowITreat #InbornErrorsOfImmunity #IEIs

Human germline biallelic loss-of-function OSMR variants cause severe allergic disease. New study from Simran Samra, Mehul Sharma, Stuart E. Turvey @turveylab.bsky.social and colleagues: rupress.org/jhi/article/... #Immunology #Genetics #Atopy #IEIs #InbornErrorsOfImmunity

🔔 We're delighted to share the Abstracts from the 9th Scientific Meeting of the Japanese Society for Immunodeficiency & Autoinflammatory Diseases (JSIAD), which took place Feb. 14–15, 2026, in Sendai. Explore the latest advancements in #IEIs clinical practice & research 👉 rupress.org/jhi/issue/2/...

This multiple-case study from O’Connor, Lopez et al. explores the burdens of illness, caregiving, and treatment for five families with children with severe leukocyte adhesion deficiency, type I (LAD-I). rupress.org/jhi/article/... #IEIs #InbornErrorsOfImmunity

STAT2 R148 variant: A 16th-century founder mutation and clinical response to high-dose JAK inhibitor therapy. New study from Nima Parvaneh (Tehran University of Medical Sciences), Jacinta Bustamante @institutimagine.bsky.social and colleagues: rupress.org/jhi/article/... #Autoinflammation #IEIs

Large vessel #vasculopathy: An underrecognized complication in #WiskottAldrich syndrome. New study from Deepti Suri and colleagues (PGIMER, Chandigarh, India): rupress.org/jhi/article/... #ImmunologicalPhenotypes