How I treat chronic granulomatous disease The authors present their practical guide to diagnosis and treatment of chronic granulomatous disease, including the first comprehensive clinical protocol

A thoughtful consensus on how to manage patients with CGD:

How I treat chronic granulomatous disease url: rupress.org/jhi/article/...

Human CD21loT-bet+ B cells: Not as easy as “ABC”! This Review provides an overview of the discoveries, origins, and complexities of CD21lo B cells, and how studying inborn errors of immunity can provide a

This is a thorough, critical, and superb Review of a complex and controversial human B cell subset, the famous "ABC" -- a must-read !👇

Human CD21loT-bet+ B cells: Not as easy as “ABC”! url: rupress.org/jhi/article/...

Does anyone have serum/plasma from a cohort of (ambulatory) patients with herpes zoster (shingles) ? A small cohort would be fine. We will test if they have auto-Abs against type I IFNs, as the risk of zoster increases over 50 yo. Please RT or contact me !

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

5/5

5) and most importantly for patients, we show outcomes with bone marrow transplantation which is the only curative therapy known thus far

4/5

4) no correlation with age of disease onset and VAF for patients with mosaicism - and most of these patients have the variant present in their skin fiber blast, which means they were born with the somatic variants

3/5

3) as more TLR8 variants are emerging, we propose a spectrum of disease - as shown by direct comparisons of variants from patients with INFLTR8 phenotype (lymphoproliferation and bone marrow failure) vs a family reported with anemia - with much stronger GOF with INFLTR8

2/5

the infant girl with TLR8 GOF had a germline variant identical to those we previously identified as mosaic in males

2) 3 new pathogen variants, both mosaic and at position 432 - the most common amino acid change in this disease

Clinical characteristics, management, and hematopoietic cell transplantation of patients with TLR8 gain-of-function Key PointsTLR8 GOF is an X-linked dominant disease that should be considered in both male and female patients with cytopenia and immune dysregulation.Patie

1/5
Here we show in work led by Dani Arnold-
1) the first female patient with TLR8 GOF/INFLTR8- an X linked DOMINANT #inbornerrorofimmunity

Clinical characteristics, management, and hematopoietic cell transplantation of patients with TLR8 gain-of-function url: ashpublications.org/bloodadvance...

Not getting the nod: The case against Yao syndrome There are 30+ papers published on NOD2-autoinflammatory (Yao) syndrome. However, approximately one in five people is heterozygous for Yao-associated varian

One syndrome less !
Not getting the nod: The case against Yao syndrome url: 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

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/...

Congratulations @casanovalab.bsky.social

Join us in congratulating our EiC Jean-Laurent Casanova on his 2026 Nemmers Prize in Medical Science! @casanovalab.bsky.social discovered the genetic causes of more than 20 infections, including severe COVID pneumonia. From @feinberg.northwestern.edu 👉 news.northwestern.edu/stories/2026...

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

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

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/...

Novel molecular assays for monitoring T cell function after HSCT in two siblings with variants in DCLRE1C. New study from Anna Lyytikäinen, Pegah Johansson and colleagues (Sahlgrenska University Hospital): rupress.org/jhi/article/...

#SCID #CellDivisionAssay #FlowCytometry #DNARepair #DSB #NHEJ

Our March issue is here! rupress.org/jhi/issue/2/2
In this issue, Zhou et al. (rupress.org/jhi/article/...) describe four patients with three new MCTS1 alleles. MCTS1 mutations are typically truncating and lead to complete or near-complete loss-of-function.

1/ We are excited to report in @sciimmunology.bsky.social that human complete and selective LFA-1 deficiency causes isolated Epidermodysplasia Verruciformis (EV). This surprising phenotype revealed a surprising mechanism 🙂 www.science.org/doi/10.1126/...

TLR7 mutations leading to enhanced TLR7 signaling in humans Three studies in this issue of JHI extend our understanding of the genetic, molecular, and clinical characteristics of human disease associated with a gain

This is the first News & Views of @jhumimmunity.org and it is a must-read !
TLR7 mutations leading to enhanced TLR7 signaling in humans url: rupress.org/jhi/article/...

Join us tomorrow, 📆 Tuesday at 16:30 for a session on Somatic Mutations, led by the ESID Genetics Working Party Chair Bodo Grimbacher.

The Grand Round will feature four excellent presentations from Sinisa Savic, Megan Cooper, Laura Batlle and Roger Colobran.

Register now ➡️ bit.ly/4qOe9Q7

Novel molecular assays for monitoring T cell function after HSCT in two siblings with variants in DCLRE1C Lyytikäinen et al. report two novel assays to characterize T cell function in two patients with DCLRE1C variants diagnosed with leaky SCID. The cell divisi

Important methodological improvement for patients with some forms of SCID:
Novel molecular assays for monitoring T cell function after HSCT in two siblings with variants in DCLRE1C url: rupress.org/jhi/article/...

Expanding the scope of human immunology in the Journal of Human Immunity. New Editorial from Petter Brodin @petterbrodin.bsky.social, Megan Cooper @macattacklab.bsky.social, Jean-Laurent Casanova @casanovalab.bsky.social, and colleagues in the JHI Editorial team:

Beyond survival: Multisystem long-term outcomes following #HSCT in chronic granulomatous disease. New study from Valentina Guarnieri, Reem Elfeky and colleagues @greatormondst.bsky.social: rupress.org/jhi/article/...

#InbornErrorsOfImmunity #immunodeficiencies #CGD
@esidsociety.bsky.social

Moratti et al. exemplify how an effective management of IEI-related LPD demands close collaboration among immunologists, hematologists, & pathologists—integrating clinical presentation with serology, histology, immunohistochemistry, clonality assays, EBV status & genetics rupress.org/jhi/article-...

Expanding the scope of human immunology in the JHI. In this Editorial, @petterbrodin.bsky.social, @macattacklab.bsky.social, @casanovalab.bsky.social, alongside JHI's Associate, Consulting, as well as Society Editors, outline a broader scope for the journal. rupress.org/jhi/article/...

Guarnieri, Elfeky et al. @greatormondst.bsky.social report long-term outcomes after #HSCT in children with chronic granulomatous disease. While survival is excellent, a wide range of autoimmune and organ-specific late effects emerge. rupress.org/jhi/article/...

#CGD #InbornErrorsOfImmunity

Akalu et al. @bogunoviclab.bsky.social @columbiamed.bsky.social report new and long-term follow-up cases of human #TBK1 deficiency, revealing that, beyond systemic #autoinflammation, affected individuals are also vulnerable to severe viral #encephalitis. rupress.org/jhi/article/...