We are pleased to announce that applications for the 2026 Diagnostic School are now open. If you are looking to deepen your expertise in Clinical and Diagnostic Immunology, we encourage you to apply. ➡️ https://clinimmsoc.org/CIS/Meetings/Diagnostic-School1.htm ⏳ Applications April 10th.

Lyytikäinen, Johansson et al. report two novel assays to characterize T cell function in two patients with DCLRE1C variants diagnosed with leaky severe combined immunodeficiencies (#SCID). rupress.org/jhi/article/... #SCID #PrimaryImmunodeficiency #InbornErrorsOfImmunity #HSCT #ClinicalImmunology

Lymphoproliferation in #InbornErrorsOfImmunity: From challenging diagnosis to histologic revision. New study from Mattia Moratti, Caterina Cancrini @unibo.it and colleagues: rupress.org/jhi/article-... @esidsociety.bsky.social

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:

An assessment of UK XLA patients by Shillitoe et al. reveals that bronchiectasis, present in the majority of adults, is strongly associated with diminished quality of life.

Letter to the Editor: Following on from the recent paper by Kindle et al. (rupress.org/jhi/article/...), Roberto Paganelli describes the history of the ESID (@esidsociety.bsky.social) registry, with the help of original documents of the precursor EGID going back to 1994. rupress.org/jhi/article/...

Ebens, Akha et al. demonstrate successful allogeneic #HSCT of CD40L deficiency using an asymptomatic carrier mother donor, with achievement of 32% CD40L expression, recovery of thymopoiesis, normal T cell diversity and functional outcomes of T and B cell interactions. rupress.org/jhi/article/...

Adolescents with #InbornErrorsOfImmunity face school hurdles. Lopez-Seguer, Riviere, Soler-Palacin et al. @vallhebron.com call for co-developed, teacher-facing protocols with authorities and patient groups. rupress.org/jhi/article/... #IEI #RareDisease #Peds #Education @esidsociety.bsky.social

Human TBK1 deficiency: An expanded spectrum from #autoinflammation to viral #encephalitis. New report from Yemsratch Akalu, Dusan Bogunovic @bogunoviclab.bsky.social @columbiamed.bsky.social and colleagues: rupress.org/jhi/article/... #InbornErrorsOfImmunity @clinimmsoc.bsky.social

🎥 JHI’s Editor-in-Chief Jean-Laurent Casanova (@casanovalab.bsky.social) shares the vision behind JHI and what sets the journal apart in the rapidly evolving field of human immunity. Watch the full video and learn more about publishing in JHI here 👉 rupress.org/jhi/pages/pu...

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/...

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

Does concomitant IBD in IEI affect HSCT outcomes?  A new Japanese registry study shows that while patients with IBD have a higher incidence of acute GI GVHD, it does not translate into worse TRM or overall survival after transplant. https://www.astctjournal.org/article/S2666-6367(25)01558-1/fulltext

The ECI Case Conference Webinar is Tomorrow! Have you registered yet? ⚠️A recording will not be available of this webinar at the request of the moderator. Live attendance is encouraged. Save your spot! Register Now: https://us02web.zoom.us/webinar/register/WN_Qn_LwAQnQceIa0Jrh9sZxw#/registration

Early Bird Registration for the 2026 CIS Annual Meeting in New Orleans Closes Today! Secure your spot for our 40th Anniversary celebration by February 16th. Registration: https://cis.clinimmsoc.org/education/meetings/am26/logistics/registration-information #CIS2026

Tune in February 19th for the ECI Case Conference Webinar ⚠️Note: A recording will not be available of this webinar at the request of the moderator. Live attendance is encouraged. Save your spot! Register Now: https://us02web.zoom.us/webinar/register/WN_Qn_LwAQnQceIa0Jrh9sZxw#/registration

Managing non-SCID T cell lymphopenia after TREC-based #NewbornScreening. New study from Annelotte J. Duintjer, Maartje Blom @unileiden.bsky.social and colleagues: rupress.org/jhi/article/... #TCellDeficiencies #Diagnostics; #SevereImmunodeficiencies #SCID @esidsociety.bsky.social

Acute necrotizing encephalopathy associated with #COVID19 in a pediatric patient and a systematic review. New study from Kanako Takeuchi, Satoshi Okada and colleagues (Hiroshima University): rupress.org/jhi/article/... #InfectiousDiseases #PopulationGenetics #SarsCoV2

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/...

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

#Autoantibodies neutralizing type 1 #interferons in two cohorts of people with #HIV. New study from Julie A. Jensen, Jean-Laurent Casanova @casanovalab.bsky.social, Trine H. Mogensen @au.dk and colleagues: rupress.org/jhi/article/... @esidsociety.bsky.social

Complete and partial forms of X-linked MCTS1 deficiency in patients with mycobacterial disease. New study by Qinhua Zhou (Fudan University), Jacinta Bustamante @institutimagine.bsky.social, Jonathan Bohlen @jonathanbohlen.bsky.social @lmumuenchen.bsky.social & colleagues rupress.org/jhi/article/...

Duintjer, Blom et al. @unileiden.bsky.social present clinical follow-up data of 6.5 years of #NewbornScreening for #SCID, underscoring the importance of preventing overtreatment and avoiding unnecessary prolonged follow-up. rupress.org/jhi/article/... #Diagnostics #Immunodeficiencies

🎥 JHI’s Editor-in-Chief Jean-Laurent Casanova shares the vision behind JHI and what sets the journal apart in the rapidly evolving field of human immunity. Watch the full video and learn more about publishing in JHI here 👉 rupress.org/jhi/pages/pu...

Takeuchi, Okada et al. report that hemorrhage detected on imaging may predict poor outcomes in acute necrotizing encephalopathy associated with #COVID19 and that RANBP2 mutations could contribute to disease susceptibility. rupress.org/jhi/article/... #InfectiousDiseases #PopulationGenetics #SarsCoV2

CLOSING SOON! ➡️ CIS Foundation Scholar Experience Grants Apply by Feb 15, 2026. -https://clinimmsoc.org/CIS/About/Foundation/CIS-Foundation-Scholar-Grants.htm less

Early Bird Registration for the 2026 CIS Annual Meeting in New Orleans has been extended! Secure your spot for our 40th Anniversary celebration by February 16th. Registration: https://lnkd.in/ggghegRy Hotel: https://lnkd.in/gsVVSEU6 #CIS2026 #Immunology #NewOrleans

Join us in reading these impressive results from Li et al., reporting sustained responses without any unexpected toxicity using CD19-targeted CAR T-cell therapy in patients with multirefractory AIHA. https://www.nejm.org/doi/10.1056/NEJMoa2509820

Cast your vote now for our next Councilors. Read each candidate’s biography and goals, then log in to the Members Only section to submit your ballot. Voting closes March 22, 2026. Results will be announced at the CIS Business Meeting on May 8, 2026. https://cis.clinimmsoc.org/forms/2026-bod-election

Join CIS February 19th for the ECI Case Conference Webinar “Familial Presentation of a Suspected STAT3 Haploinsufficiency Novel Mutation” ⚠️A recording will not be available of this webinar at the request of the moderator. Save your spot! Register Now: https://ow.ly/jCCJ50Y927T

⏰ Time is running out! Applications for the CIS Foundation Scholar Experience Grants close Sunday, February 15, 2026. 🔗 https://clinimmsoc.org/CIS/About/Foundation/CIS-Foundation-Scholar-Grants.htm #ClinicalImmunology #GrantOpportunity #FundingAlert

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

X-linked MCTS1 deficiency causes susceptibility to mycobacterial disease. Zhou, Bustamante, Bohlen et al. show that report 4 new patients carrying 3 previously undescribed truncating or loss-of-expression variants, presenting w/ BCG disease or M. abscessus infection. 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

Severe pulmonary involvement and elevated interferon-stimulated genes expression in two siblings with a novel C1QB pathogenic variant. New report from Clément Triaille, Hugo Chapdelaine and colleagues @chumontreal.bsky.social @chusaintejustine.bsky.social: rupress.org/jhi/article/... #Autoimmunity

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/...

Triaille, Chapdelaine et al @chumontreal.bsky.social report vasculitis & interstitial lung disease in two siblings with a novel C1QB pathogenic variant. Patients responded to rituximab + tacrolimus or baricitinib. rupress.org/jhi/article/... #Autoimmunity #ComplementDisorders #InbornErrorsOfOmmunity

IgA defects in #CVID lead to bacterial translocation, increased serum γ-interferon, and BAFF, say Hsi-en Ho, Charlotte Cunningham-Rundles (Icahn School of Medicine at Mount Sinai) and colleagues: rupress.org/jhi/article/... @clinimmsoc.bsky.social @esidsociety.bsky.social #Autoimmunity

Late-Breaking Abstract Submissions are NOW OPEN! This unique opportunity is designed for groundbreaking, recently generated research on immune deficiency and dysregulatory diseases. Deadline: 2/16/2026 🔗 https://cis.clinimmsoc.org/education/meetings/am26/abstracts #CIS2026 #Immunology

Time is Running Out! Apply Now for the I-CIS Innovation Grant – Vicki Modell Award: $50K for a 3rd/4th year PID/IEI fellow in US/Canada. Apply by Saturday, January 31, 2026! -https://clinimmsoc.org/.../Fun.../I-CIS-Innovation-Grant.htm

Did you know that CIS has a collection of past ECI Case Conference Webinars? These can be found on the official CIS YouTube Channel here: https://www.youtube.com/@clinicalimmunologysociety9107 While you are there, be sure to subscribe and ring the bell to keep up to date with newly added content!

Novel #TLR7 gain-of-function variant and review of the associated disease spectrum. New study from Maud Tusseau, Claire Desvignes, Anne-Laure Mathieu, Alexandre Belot et al. @ciri-lyon.bsky.social @inserm.fr: rupress.org/jhi/article/... @esidsociety.bsky.social #InbornErrorsOfImmunity #Lupus

Increased prevalence of #autoantibodies neutralizing IFNλ2/3 in young individuals with #CysticFibrosis. New report from Kevin Groen, Emanuela Bruscia, Marc Emmenegger, Benjamin Hale @benhale.bsky.social and colleagues: rupress.org/jhi/article/... #Autoimmunity #Infections

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

TLR7 F507S gain-of-function mutation presenting with early-onset #SLE and #hypertriglyceridemia: Response to JAK inhibition. New report from Nima Parvaneh, Vahid Ziaee and colleagues (Tehran University of Medical Sciences): rupress.org/jhi/article/... #Autoinflammation #InbornErrorsOfImmunity

Markers of immune dysregulation in pediatric patients with severe #bronchiolitis. New report from Katherine Hickey, Dusan Bogunovic @bogunoviclab.bsky.social and colleagues: rupress.org/jhi/article/...

Viral infection and brain #inflammation with seizures in PARK7 deficiency. New study from Jonas Lønskov, Annika Sünderhauf, Sisse Andersen, Trine H. Mogensen @au.dk and colleagues: rupress.org/jhi/article/... #InbornErrorsOfImmunity #SevereImmunodeficiencies

Immune dysregulation from a novel CTLA-4 haploinsufficiency variant. New study from Nina N. Brodsky, Saquib A. Lakhani and colleagues @yaleschoolofmed.bsky.social: rupress.org/jhi/article/... #InbornErrorsOfImmunity