A surprising and exciting observation ! Human germline biallelic loss-of-function OSMR variants cause severe allergic disease rupress.org/jhi/article/...

From the past to the future: STAT2 R148 variant: A 16th-century founder mutation and clinical response to high-dose JAK inhibitor therapy rupress.org/jhi/article/...

Improving thymus implantation: Rebooting immunity in congenital athymia: Factors impacting reconstitution with thymus implantation rupress.org/jhi/article/...

Important and neglected feature of WAS: Large vessel vasculopathy: An underrecognized complication in Wiskott–Aldrich syndrome rupress.org/jhi/article/...

Therapeutic breakthrough: C5 inhibition restores B cell homeostasis and humoral immunity in CHAPLE disease patients rupress.org/jhi/article/...

Perspective @casanovalab.bsky.social @jhumimmunity.org Toward a monogenic architecture of human infections: From 1996 to 2026 rupress.org/jhi/article/...

Chronic granulomatous disease: Clinical, microbial, and genetic findings in 39 Colombian patients rupress.org/jhi/article/...

A case of gastrointestinal tuberculosis in a 3-mo-old infant with profound immunodeficiency rupress.org/jhi/article/...

Exciting news at the intersection of immunology and metabolism: FAS-controlled T cells drive lymphoproliferation through glycolysis without effector differentiation rupress.org/jhi/article/...

@clinimmsoc.bsky.social Society editor Andy Snow picks off #CIS2026 with a highlight of the last year in @jhumimmunity.org

New review: Allergy can be a genetic disease. Modi et al. show how primary atopic disorders reveal mechanisms controlling barrier integrity, immune signaling and tolerance, and inform precision therapies. From @turveylab.bsky.social: rupress.org/jhi/article/... #Atopy #Therapeutics

Tanaka, Sugawara, Kudo, Fukuda et al. functionally characterize compound heterozygous RAB27A variants in Japanese Griscelli syndrome type 2 patients with normal pigmentation, showing allele-specific dissociation of #melanosome transport and cytotoxic function. rupress.org/jhi/article/...

Really proud of this new review covering human primary atopic disorders. @jhumimmunity.org

🔔 We’re pleased to share the abstracts from the Clinical Immunology Society's 2026 Annual Meeting: Immune Deficiency and Dysregulation, May 6–9, in New Orleans 🔗 Explore the CIS Annual Meeting Abstracts 👉 rupress.org/jhi/issue/2/... #ClinicalImmunology #CIS2026 #Immunology

STING gain-of-function has primarily been described to cause pediatric-onset disease. Here, Riley, Kotzin, Finck, Miner et al. report a surprisingly high prevalence of adult-onset #SAVI among patients with common #autoimmune disease diagnoses. rupress.org/jhi/article/... #Autoimmunity #IEIs

How I Treat: Immune dysregulation in #DownSyndrome. Melissa Gans (University of Miami Miller School of Medicine) and colleagues propose actionable insights: rupress.org/jhi/article/... #HowITreat #Autoimmunity #InbornErrorsOfImmunity @bogunoviclab.bsky.social

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...

X-linked SEPTIN6-related congenital neutropenia and B cell deficiency. new study from Lauren M. Gunderman, Eric J. Allenspach and colleagues @seattlechildrens.org: rupress.org/jhi/article/... #InbornErrorsOfImmunity #ClinicalPhenotypes #Septins #Bcells

How I Treat: Haploinsufficiency of A20. A comprehensive clinical framework for diagnosing and managing HA20 from Jonathan Li, Kader Cetin Gedik, Daniella M. Schwartz and colleagues (University of Pittsburgh): rupress.org/jhi/article/... #HowITreat #raredisease #autoinflammatory #IEI #PIRD

Thymic output in human newborns is shaped by environmental exposures and a common TCRD genetic variant. New study from Ziyang Tan, Camille Kergaravat, Antoine Toubert @upcite.bsky.social, Petter Brodin @petterbrodin.bsky.social @ki.se and colleagues: rupress.org/jhi/article/...

#Fibroblast-driven #collagen expansion and altered thymic medullary niches in 22q11.2 deletion syndrome. New study from Viktoria Hennings, Olov Ekwall and colleagues (University of Gothenburg): rupress.org/jhi/article/... #InbornErrorsOfImmunity #ClinicalPhenotypes #Thymus

This beautiful Review would have been perfect for @jhumimmunity.org 😉 LCK’ed in: Inborn errors of immunity in LCK reveal how TCR signaling is calibrated rupress.org/jem/article/...

Spectacular discovery that STING GOF mutations can strike adults: Adult-onset STING-associated vasculopathy rupress.org/jhi/article/...

Who would have thought 30 yrs ago that there would be > 50 inborn errors of immunity underlying atopy ? This has been the most insightful study of allergy: Primary atopic disorders: Monogenic insights into immunity rupress.org/jhi/article/...

RAB27A genotypes without albinism in Japan: Functional characterization of Griscelli syndrome type 2 sine albinism in Japanese patients rupress.org/jhi/article/...

1/ We are thrilled to share our collaborative study of B cells producing auto-Abs neutralizing type I IFNs in @cellpress.bsky.social (www.cell.com/cell/abstrac... ).

In @jhumimmunity.org, Nidia Moreno-Corona, Sven Kracker et al. describe WDR75 variants in a patient with B cell immunodeficiency and #autism. Their findings suggest that altered #ribosome biogenesis may contribute to this rare presentation. rupress.org/jhi/article/... #RareDisease

Nidia Moreno-Corona, Sven Kracker et al. describe WDR75 variants in a patient with B cell immunodeficiency and #autism. Their findings suggest that altered #ribosome biogenesis may contribute to this rare presentation. rupress.org/jhi/article/... #RareDisease @institutimagine.bsky.social

Ribosomal RNA processing impairments in a B cell immunodeficient patient with WDR75 variants rupress.org/jhi/article/...

Expanding the scope of PI3K-δ inhibition: Leniolisib treatment in PRKCD deficiency. New report from Lodi, Guarnieri, Ricci, et al. at the University of Florence: rupress.org/jhi/article/...

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...

Congratulations to JHI Scientific Advisory Board member Mark S. Anderson on his election to the National Academy of Sciences. We are proud to have your expertise serving the journal. #NASmembers

🔔 We're delighted to share the Abstracts from the Clinical Immunology Society's (CIS) 2026 Annual Meeting: Immune Deficiency and Dysregulation, May 6–9, in New Orleans 🔗 Explore the latest advances in #ClinicalImmunology 👉 rupress.org/jhi/issue/2/... #CIS2026 #Immunology

HA20: an underrecognized #immunedysregulation disease affecting up to 1:14,000. Jonathan Li, Daniella M. Schwartz et al. cover diagnosis, #biomarker-guided therapy with IL-1/TNF/JAK inhibitors, and family screening: rupress.org/jhi/article/... #HowITreat #raredisease #autoinflammatory #IEI #PIRD

In a new study from Tan, Kergaravat, @petterbrodin.bsky.social et al., longitudinal profiling of 136 newborns shows thymic output peaks at 3–4 mo, correlating with plasma RANKL, lymphotoxin-α, and the TCRD variant rs2204985. rupress.org/jhi/article/...

Hennings, Ekwall et al. integrated spatial transcriptomic and proteomic analyses of #thymus tissue from patients with 22q11.2 deletion syndrome to identify fibroblast-driven collagen expansion and alterations in medullary niches. rupress.org/jhi/article/... #InbornErrorsOfImmunity

Gunderman, Allenspach et al. @seattlechildrens.org share the second report of X-linked SEPTIN6-related disease in two brothers identified by #SCID newborn screening. rupress.org/jhi/article/... #Septins #IEI #InbornErrorsofImmunity #ClinicalPhenotypes #Bcells

Using clinical vignettes, Melissa Gans et al. highlight the underlying mechanisms and potential treatments for immune dysregulation in #DownSyndrome. rupress.org/jhi/article/... #HowITreat #Autoimmunity #InbornErrorsOfImmunity @bogunoviclab.bsky.social

Our May issue is here! rupress.org/jhi/issue/2/3 L840R substitution rearranges TLR7 interface interactions with UNC93B1. Complex structure of TLR7 shown in coral with UNC93B1 depicted in blue. See Sethumadhavan et al. doi.org/10.70962/jhi...

How I Treat: Haploinsufficiency of A20 rupress.org/jhi/article/...

A long-awaited consensus on the management of immunological manifestations of Down syndrome: How I Treat: Immune dysregulation in Down syndrome rupress.org/jhi/article/...

New, exciting insights onto the thymic biology and medicine of the 22q/DGS: Fibroblast-driven collagen expansion and altered thymic medullary niches in 22q11.2 deletion syndrome rupress.org/jhi/article/...

New, fascinating insights into thymic output in young infants: Thymic output in human newborns is shaped by environmental exposures and a common TCRD genetic variant rupress.org/jhi/article/...

X-linked SEPTIN6 deficiency as a novel cause of syndromic T cell deficiency ! X-linked SEPTIN6-related congenital neutropenia and B cell deficiency rupress.org/jhi/article/...

Excellent expert consensus for treat CGD

In @jhumimmunity.org, @casanovalab.bsky.social discusses the 30-year history and future implications of emerging science showing that monogenetic lesions, and #autoimmune disorders targeting the same components of host defense, can underlie the same infection. rupress.org/jhi/article/...

Congratulations to Journal of Human Immunity Scientific Advisory Board member John J. O'Shea on his election to the American Academy of Arts and Sciences. We thank him for his leadership and dedication to the field of human #immunology. #HumanImmunity

Lodi, Guarnieri, Ricci, et al from the University of Florence report the successful use of #leniolisib, a PI3Kδ inhibitor, to treat a teenager with protein kinase C δ deficiency & progressive multiorgan immune dysregulation, expanding on leniolisib’s potential indications rupress.org/jhi/article/...

New study from Bhattad, Singh, et al. analyzes the records of five Activated phosphoinositide 3-kinase δ syndrome 1 (APDS1) patients, representing the first case series of APDS1 from the Indian subcontinent. rupress.org/jhi/article/... #InbornErrorsOfImmunity

How I treat chronic granulomatous disease: Jennifer W. Leiding @jhu.edu, Michael D. Keller (Children’s National Hospital) and colleagues present their consensus approach to diagnosis and management of CGD. rupress.org/jhi/article/... #HowITreat #InbornErrorsOfImmunity