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

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...

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/...

Excellent expert consensus for treat CGD

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

Human CD21ˡᵒT-bet⁺ B cells: Not as easy as "ABC"! New review from Stuart G. Tangye (Garvan Institute of Medical Research): rupress.org/jhi/article/... #InbornErrorsOfImmunity #Infections #AutoAntibodies

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

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

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 review from Stuart G. Tangye provides an overview of the discoveries, origins, and complexities of CD21ˡᵒ B cells, and how studying inborn errors of immunity can provide a unique window to understand the molecular requirements for generating these cells. rupress.org/jhi/article/...

Leiding, Keller et al. present their practical guide to diagnosis and treatment of chronic granulomatous disease, including the first comprehensive clinical protocol for treatment of CGD. rupress.org/jhi/article/... #HowITreat #InbornErrorsOfImmunity

Multigenerational SOCS1 insufficiency: Implications for the pathogenesis of allergic and autoimmune disease. New report from Cliodhna Murray (Galway University Hospital) and colleagues: rupress.org/jhi/article/... #Autoimmunity #ClinicalPhenotypes #Atopy

#KawasakiDisease complicated by #macrophage activation syndrome treated with #canakinumab. New study from Stejara A. Netea and colleagues @amsterdamumc.bsky.social: rupress.org/jhi/article/... #ClinicalPhenotypes #Therapeutics

Dominant-negative PSMB10 disrupts immunoproteasome assembly and leads to transient T #lymphopenia. New study from Sujal Ghosh (University Hospital Düsseldorf), Yuqin Wang, Silke Meiners @fzborstel.bsky.social, Fabian Hauck @lmu.de and colleagues: rupress.org/jhi/article/... @esidsociety.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...

Not getting the nod: The case against Yao syndrome. A new Perspective by Paul E. Gray, @sethlucianmasters.bsky.social, and Edwin P. Kirk. rupress.org/jhi/article-... #Autoimmunity #Autoinflammation #InbornErrorsOfImmunity

Response to recombinant human granulocyte colony-stimulating factor in reticular dysgenesis. New study from Manabu Wakamatsu, Megumu K. Saito @cira-ku.bsky.social, Hideki Muramatsu @en.nagoya-u.ac.jp and colleagues: rupress.org/jhi/article/... #immunodeficiencies

This letter on multigenerational #SOCS1 insufficiency from Cliodhna Murray et al. (Galway University Hospital) highlights diagnostic importance of considering monogenic immune dysregulation in complex allergic and #autoimmune diseases. rupress.org/jhi/article/... #Atopy #Autoimmunity #Allergies

Stejara A. Netea et al. @amsterdamumc.bsky.social present an infant with #macrophage activation syndrome as part of #KawasakiDisease, who was first treated with #canakinumab, followed by #methylprednisolone and intravenous immunoglobulins. rupress.org/jhi/article/...

Ghosh, Wang, Meiners, Hauck et al. describe a monoallelic dominant-negative PSMB10 variant that impairs immunoproteasome assembly & is associated with transient neonatal T #lymphopenia, highlighting a potentially dynamic & reversible form of early-life thymic dysfunction rupress.org/jhi/article/...

One syndrome less ! Not getting the nod: The case against Yao syndrome url: rupress.org/jhi/article/...

Using single-cell RNA-seq, Manabu Wakamatsu, Hideki Muramatsu et al. @en.nagoya-u.ac.jp show that rhG-CSF suppresses IFNγ signaling and promotes B-cell differentiation in reticular dysgenesis, with potential benefits before #HSCT. rupress.org/jhi/article/... #immunodeficiencies

Perspective: Paul E. Gray, @sethlucianmasters.bsky.social, & Edwin P. Kirk argue that the lack of large association studies between Yao-associated variants & clinical phenotypes mean that the diagnosis should not be used in the literature or in the clinic rupress.org/jhi/article/... #Autoimmunity

Familial lupus associated with a P2RY8 variant: navigating the boundary between monogenic disease and genetic susceptibility to #lupus. New report from Clémence David, Marie-Louise Frémond @institutimagine.bsky.social and colleagues: rupress.org/jhi/article/... @esidsociety.bsky.social

Refractory infantile #IPEX with Treg-restricted FOXP3null expression caused by a novel variant in #FOXP3. New study from Ahmad Rayes, Rosa Bacchetta and colleagues @uofuhealth.bsky.social: rupress.org/jhi/article/... #InbornErrorsOfImmunity #Autoimmunity @clinimmsoc.bsky.social

Toward a monogenic architecture of human infections: from 1996 to 2026. New Perspective from Jean-Laurent Casanova @casanovalab.bsky.social: rupress.org/jhi/article/... #InbornErrorsOfImmunity #Autoimmunity #autoantibodies #ImmunologicalPhenotypes @clinimmsoc.bsky.social @esidsociety.bsky.social

1/ Thrilled to share a Perspective that summarizes 30 years of work from the many labs studying the human genetic and immunological causes of infectious diseases: doi.org/10.70962/jhi...

Except the unexpected: A TIPIC syndrome in a child with #IPEX. New report from Vincent Fréret, Agathe Escudier and colleagues @hopitalnecker.bsky.social: rupress.org/jhi/article/... #ImmunologicalPhenotypes #InbornErrorsOfImmunity #ClinicalPhenotypes #Diagnostics #FOXP3

In this Perspective, Casanova @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/...

Rayes et al. outline the clinical, genetic, & immunologic features of a novel #FOXP3 missense variant causing severe, treatment-resistant #IPEX in an infant, emphasizing the usefulness of quantifying TSDR-demethylated cells as an early biomarker of IPEX disease activity. rupress.org/jhi/article/...

David, Frémond @institutimagine.bsky.social et al. identify a heterozygous P2RY8 E323G substitution in a father and son with cutaneous #lupus and enhanced type I #interferon signaling supports a role for P2RY8 in lupus causation rupress.org/jhi/article/...

From variants to answers: The evolution of genetic counseling in IEI. New Perspective from Blanca García-Solís, Rebeca Pérez de Diego, and Silvia Sánchez-Ramón (Hospital Clínico San Carlos): rupress.org/jhi/article/... #Diagnostics #InbornErrorsOfImmunity @esidsociety.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...

Apolipoproteins L involvement in immunity. New Perspective from Etienne Pays @ulbruxelles.bsky.social: rupress.org/jhi/article/... #Infections #autoantibodies #InbornErrorsOfImmunity #ImmunologicalPhenotypes

Fréret, Escudier et al. @hopitalnecker.bsky.social describe a child with #IPEX due to a #FOXP3 mutation, presenting with carotid perivasculitis consistent with TIPIC syndrome on multimodal imaging, who achieved clinical and radiologic remission after corticosteroids. rupress.org/jhi/article/...

Hematopoietic stem cell transplantation as a curative treatment for Nck-associated protein 1-like (HEM1) deficiency: A first case report. From Julian Thalhammer, Wadih Abou Chahla @chulille.bsky.social and colleagues: rupress.org/jhi/article/... #InbornErrorsOfImmunity #Therapeutics #HSCT

Perspective: Garcia-Solis et al. examine genetic testing advances in #InbornErrorsOfImmunity, highlighting challenges in variant interpretation and the need for standardized approaches. rupress.org/jhi/article/...

Autoantibodies neutralizing type I IFNs in 40% of patients with WNV encephalitis in seven new cohorts. From Adrian Gervais, Francesca Trespidi, Alessandro Ferrari, Francesca Rovida, Aurélie Cobat, Shen-Ying Zhang, Jean-Laurent Casanova, Alessandro Borghesi & colleagues rupress.org/jhi/article/...

Polyclonal evolution of lymphoproliferative disorders in XLP1. New study from Dan Tomomasa, Akira Nishimura, Hirokazu Kanegane (Institute of Science Tokyo) and colleagues: rupress.org/jhi/article/... #InbornErrorsOfImmunity

Perspective: Etienne Pays @ulbruxelles.bsky.social proposes that the lipid-interacting proteins of the APOL families specifically control cellular membrane dynamics involved in processes linked to immunity, like antigen presentation, inflammation, mitophagy, & apoptosis. rupress.org/jhi/article/...

Thalhammer et al. report the first successful hematopoietic stem cell transplantation for HEM1 (NCKAP1L) Deficiency. A girl (5y) underwent #HSCT with a MSD after RTX, Alemtuzumab, TTF conditioning for recurrent infections and EBV-induced HLH and is fine 3y post HSCT. rupress.org/jhi/article/...

Cerebral amebiasis due to #Acanthomoeba sp. in a patient with complete gp91phox deficiency. New report from Marie Roelens, Jacinta Bustamante and colleagues @hopitalnecker.bsky.social @institutimagine.bsky.social: rupress.org/jhi/article/... @esidsociety.bsky.social

Auto-Abs neutralizing type I INFs in ~40% of patients with West Nile virus (WNV) encephalitis – the sequel @jhumimmunity.org with A Gervais, F Trespidi, A Ferrari, F Rovida, A Cobat, @shenyingzhang1.bsky.social , @casanovalab.bsky.social and co-authors mentioned👇in thread rupress.org/jhi/article/...

Our new study @jhumimmunity.org - detailed thread will follow !

Gervais, Trespidi, Ferrari, Rovida, Cobat, Zhang, Casanova, Borghesi et al. show that, in 13 European, Middle-Eastern, and American cohorts, pre-existing autoantibodies neutralizing type I IFNs are causal for WNV encephalitis in about 40% of patients. rupress.org/jhi/article/...

Unmanipulated bone marrow infusion without conditioning can rescue RECQL4-/- severe combined immunodeficiency. New study from Alexandra Grier and colleagues @chopresearch.bsky.social: rupress.org/jhi/article/... #ClinicalPhenotypes #immunodeficiencies #InbornErrorsOfImmunity #SCID #HSCT

Tomomasa, Nishimura, Kanegane et al. investigated #tumorigenesis mechanisms through transcriptomic profiling and somatic variant analysis in tumor samples from six patients with X-linked lymphoproliferative syndrome type 1 (XLP1). rupress.org/jhi/article/... #InbornErrorsOfImmunity

Hematopoietic stem cell transplantation following invasive mold infection in chronic granulomatous disease: insights from a case series and literature review. New study from Hugo Bes-Berlandier, Fanny Lanternier @hopitalnecker.bsky.social and colleagues: rupress.org/jhi/article/... #CGD #HSCT

Rare variants in CYBB (encoding gp91phox) are responsible for chronic granulomatous disease. Roelens, Bustamante et al. @hopitalnecker.bsky.social report a patient affected by multiple cerebral abscesses caused by #Acanthamoeba sp. and complete gp91phox deficiency. rupress.org/jhi/article/... #CGD

Oncostatin M receptor deficiency as a novel candidate genetic cause of autosomal recessive hyper-IgE syndrome. New study from Sisse Andersen, Kristian Assing, Trine H. Mogensen and colleagues @au.dk: rupress.org/jhi/article/... #InbornErrorsOfImmunity #immunodeficiencies #InfectiousDiseases