Megan Cooper

New work from Cook et al. of the Janet Markle lab @vanderbilt.edu and collaborators at Joe DiMaggio Children’s Hospital identifies a de novo PSTPIP1 mutation causing increased pyrin binding, enhanced pyrin inflammasome formation, and severe autoinflammatory disease. rupress.org/jhi/article/...

Autoinflammatory disease and severe neutropenia due to de novo mutation of PSTPIP1 with increased binding to pyrin. New report from Sarah Cook, Christopher Chang (Joe DiMaggio Children’s Hospital), Janet Markle @vanderbilt.edu and colleagues: rupress.org/jhi/article/...

@clinimmsoc.bsky.social

Jensen, @casanovalab.bsky.social, Mogensen @au.dk and colleagues study type I interferon neutralizing autoAbs in people with #HIV, and find that the prevalence does not significantly differ from that in the general population. rupress.org/jhi/article/...

@esidsociety.bsky.social

1/ We are excited to share our new report in PNAS: all three cases of encephalitis triggered by the live-attenuated chikungunya (CHIKV) vaccine (IXCHIQ®) are due to pre-existing autoantibodies neutralizing type I IFN (AAN-I-IFN) (doi.org/10.1073/pnas...).

Join the first ESID Grand Round of 2026, taking place on Wednesday, 28 Jan at 16:30 CET.

🧬 Topic: Biology and Clinical Manifestations of CARD11-Driven Disorders🎙 Moderator: Prof. Fabian Hauck
🗣️ Speakers: Andrew Snow, Letizia Baldini, Maria Alejandra Mejia Gonzalez
💻 Register: bit.ly/3NZQZbL

Shared TCR Vb21.3+ T cell immunological signature between MIS-A and MIS-C. New study from Liliane Khoryati, Guy Gorochov @sorbonne-universite.fr, Trine H. Mogensen @au.dk, Alexandre Belot @ciri-lyon.bsky.social @cnrs.fr @inserm.fr and colleagues: rupress.org/jhi/article/...

#SARSCoV2 #Diagnostics

Ho, Cunningham-Rundles et al. show that bacterial transcytosis in common variable immune deficiency leads to the production of IFN-gamma and other inflammatory signals in subjects who develop the non-infectious complications found in this immune defect. rupress.org/jhi/article/...

#CVID

Mosaic STAT5B gain-of-function associated with demyelinating disease and autoimmunity | Journal of Human Immunity | Rockefeller University Press A patient with a predominantly neurological phenotype was found to have a mosaic STAT5B gain-of-function variant and was successfully treated with HCT.

3️⃣ This study from Schmitt et al. @macattacklab.bsky.social describes a patient with a predominantly neurological phenotype, who was found to have a mosaic STAT5B gain-of-function variant and was successfully treated with HCT. rupress.org/jhi/article/...

Children w/ #bronchiolitis exhibit a unique immunophenotype. Hickey, @bogunoviclab.bsky.social et al identify a significant difference in plasmacytoid #DendriticCells & #eosinophils in hospitalized patients, plus differences in cytokines involved in airway #inflammation rupress.org/jhi/article/...

TLR7 F507S gain-of-function mutation presenting with early-onset SLE and hypertriglyceridemia: Response to JAK inhibition url: rupress.org/jhi/article/...

As 2025 wraps up, we're proud to celebrate the inaugural year of the Journal of Human Immunity (JHI)! 🎉 Here are our 5 most-read articles so far 👇🧬

In new report, Wang, Freeman et al. summarize the clinical phenotypes, immunologic findings, treatment, and outcomes of 10 patients with Phosphoglucomutase-3 (PGM3) deficiency rupress.org/jhi/article/...

@clinimmsoc.bsky.social

I can’t think of a better inaugural “How I Treat” for this new @jhumimmunity.org series - expert guidance from Alexandra Freeman, Beth Thielen, and Tamara Pozos on a topic relevant for all clinical immunologists - prevention and treatment of infection #inbornerrorsofimmunity @clinimmsoc.bsky.social

A new series in @jhumimmunity.org:
How I Treat: Infections and inborn errors of immunity—Prevention, diagnosis, and treatment url: rupress.org/jhi/article/...

Clinical experience with #emapalumab treatment in a group of children with primary hemophagocytic lymphohistiocytosis. A new study from Yulia Rodina et al.: rupress.org/jhi/article/...

#Therapeutics #Hemophagocytosis

Yulia Rodina et al. explore the use of #emapalumab, an interferon gamma inhibitor, in seven children with primary hemophagocytic lymphohistiocytosis. rupress.org/jhi/article/...

#Therapeutics #hemophagocytosis

There is an emerging spectrum of TLR8 GOF disease, and in this paper we also show that a variant reported in a family with anemia is GOF but to a significantly lower degree than patients with INFLTR8 who have also have neutropenia, lymphoproliferation and BM failure

Clinical Characteristics, Management, and Hematopoietic Cell Transplantation of Patients with TLR8 Gain-of-Function Key Points. TLR8 GOF is an X-linked dominant disease that should be considered in both male and female patients with cytopenia and immune dysregulation.Pat

Excited to see our update on the clinical disease and treatments for TLR8 GOF (INFLTR8) out now! We now report a total of 10 patients, including a female patient as this is a rare X linked DOMINANT genetic error of immunity - both germline and mosaic

ashpublications.org/bloodadvance...

Recurrent severe viral infection in a child with inherited complete TBK1 deficiency. New study from Sara Sebnem Kilic (Bursa Uludag University), Shuxiang Zhao (@rockefeller.edu) and colleagues: rupress.org/jhi/article/...

@casanovalab.bsky.social
@clinimmsoc.bsky.social

#InbornErrorsOfImmunity

Kilic, Zhao et al. report a child w/ a homozygous TBK1 mutation previously linked to #autoinflammation, suggesting its role in recurrent severe viral infections; the patient died from acute disseminated #encephalomyelitis. rupress.org/jhi/article/...

@casanovalab.bsky.social
@clinimmsoc.bsky.social

Human inborn errors of the alternative NF-κB pathway. New review from Tom Le Voyer, Jean-Laurent Casanova @casanovalab.bsky.social, and Anne Puel @anne-puel.bsky.social: rupress.org/jhi/article/...

#InbornErrorsOfImmunity

New review from Voyer, @casanovalab.bsky.social, & @anne-puel.bsky.social synthesizes human inborn errors of the alternative NF-κB pathway, highlighting their shared and distinct effects on lymphoid development, immune dysregulation, and mTEC-mediated tolerance rupress.org/jhi/article/...

Human inborn errors of the alternative NF-κB pathway url: rupress.org/jhi/article/...

Early identification of delayed-onset ADA deficiency: The case for expanded first-tier newborn screening. New report from Kristine Jeganathan, Anne Pham-Huy and colleagues (Children’s Hospital of Eastern Ontario @uottawa.ca): rupress.org/jhi/article/...

#InbornErrorsOfImmunity #Diagnostics

USIDNET is an important effort and resource that will enable us to better identify clinical features of inborn errors of immunity and the complications and treatment approaches that are important for us to care for patients. Congratulations to the team at CHOP leading this!

Jeganathan, Pham-Huy et al. @uottawa.ca report that standard newborn screening using T cell receptor excision circles (TRECs) failed to detect delayed-onset ADA deficiency in two cases. But retrospective MS/MS analysis showed diagnostic deoxyadenosine elevation at birth. rupress.org/jhi/article/...

ORAI1 mutation with mixed loss- and gain-of-function properties causes #immunodeficiency and HLH, say Lucile Noyer (@Lucilenoyer.bsky.social) , Stefan Feske (@stefanfeske.bsky.social) and colleagues (NYU Grossman School of Medicine): rupress.org/jhi/article/...

#InbornErrorsOfImmunity

A 𝘞𝘈𝘚 promoter variant underlying Wiskott-Aldrich syndrome in two kindreds. New report from Pauline Ober, Christelle Lenoir, Jérémie Rosain @jrosain.bsky.social and collegues @upcite.bsky.social @hopitalnecker.bsky.social: rupress.org/jhi/article/...

#InbornErrorsOfImmunity #Diagnostics

Calling all innovators in clinical immunology!
The Clinical Immunology Society is now accepting abstracts for the 2026 Annual Meeting in New Orleans!
Share your groundbreaking research on a premier stage. Submit today!
🔗 https://cis.clinimmsoc.org/education/meetings/am26/abstracts
#CIS2026

A systematic literature review of CVID reveals pervasive detrimental noninfectious manifestations. New study from Michelle Ducasa, Rebecca Marsh and colleagues: rupress.org/jhi/article/...

#ClinicalPhenotypes #InbornErrorsOfImmunity #Autoimmunity