TODAY!!!
🔗 REGISTER: us02web.zoom.us/webinar/regi...

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/...

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/...

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/...

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/...

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

#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

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

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

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/...

"We can’t do it alone. Progress in rare diseases relies on collaboration."

At #ESID2026, teamwork is at the heart of research and patient care. Watch the video to see why collaboration is key in immunodeficiencies.

Submit your abstract by May 5, 2026 🔗 https://bit.ly/3vaXQDO

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

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

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

One week to go!

From April 22–29, we come together for World PI Week.

Because access to full care — from early diagnosis to timely treatment and support — cannot wait.

Join us!
Together, we will make this happen.

#WorldPIWeek #AccessToCare #WorldPIWeek2026 #PatientAdvocacy #WeCantWait

🚨 Join our upcoming webinar!

Inborn Errors of Immunity in Latin America: from suspicion to treatment

📅 April 21, 2026
🕗 8:00 PM (Mexico City time)

🎓 Recertification credits (CMCP & CONICA)
🔗 Register now: us02web.zoom.us/webinar/regi...

#IEI #Immunology #PrimaryImmunodeficiency

We’re thrilled to kick off the 2026–2027 LASID journey, guided by our Secretary, Dr. Gisela Seminario from Argentina 🇦🇷

Together, we continue building a stronger community driven by science, collaboration, and a shared passion for immunology 🧬💫

Today, on World Health Day, we join the global community under the theme “Together for health. Stand with science.” For the IEIs means promoting early diagnosis, improving access to care, and building equitable, patient-centered health systems across Latin America.

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

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

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

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

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

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

ATTENTION 🚨 - Primary Immunodeficiency
Week is approaching.
If you are a LASID member, we invite you to send us a video telling us where you are from and sharing something interesting about how these diseases are diagnosed, treated, or otherwise managed in your country.

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/...

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

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/...

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/...

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