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Reposted

Journal of Human Immunity @jhumimmunity.org · 5d

A novel heterozygous pathogenic AIRE variant causing #autoimmunity but not infectious susceptibility. New study from Mounavi Vemula, Alberto Pinzon-Charry (Children's Health Queensland) & colleagues: rupress.org/jhi/article/...

@anne-puel.bsky.social @casanovalab.bsky.social
#InbornErrorsOfImmunity

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clinimmsoc.bsky.social @clinimmsoc.bsky.social · 3d

In the spirit of this month’s #NobelPrize honors, let us remember Mary Brunkow’s pivotal work unraveling the origin of IPEX via disruption of FOXP3—a discovery foundational to our understanding of peripheral immune tolerance and regulatory T cells. #Tregs
https://ow.ly/sb0M50XekL8

clinimmsoc.bsky.social @clinimmsoc.bsky.social · 5d

Give a shout-out to a mentor who made a difference! The CIS Foundation's "Recognize a Mentor" program lets you celebrate their impact. Support the next gen while honoring your guide.
👉 https://clinimmsoc.org/CIS/About/Foundation/Recognize-a-Mentor.htm

Reposted

Journal of Human Immunity @jhumimmunity.org · 7d

Partial STX11 deficiency due to a hypomorphic variant—self-limiting inflammatory disease preceding HLH onset. A new Research Letter from Tahereh Noori, Aaqib Zaffar Banday, Ilia Voskoboinik et al. rupress.org/jhi/article/...

🎥 See short video summary: youtu.be/cYSBIU0lh6U

#Immunodeficiency

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clinimmsoc.bsky.social @clinimmsoc.bsky.social · 12d

Attention CIS Members! Ensure your membership rights and benefits continue seamlessly by renewing for the 2026 dues year.

✅Set-it-and-forget-it: Enable Auto-Renewal.
✅Lock in your rate: Renew for 3 years, and avoid future dues increases.

Renew Today: http://cis.execinc.com/edibo/Dues

Reposted

Journal of Human Immunity @jhumimmunity.org · 13d

Cartilage-hair hypoplasia: A comprehensive review. Svetlana Vakkilainen summarizes 60 years of CHH research, covering genetic aspectss, pathogenesis, clinical & laboratory features, as well as diagnostic & management considerations rupress.org/jhi/article/...

#InbornErrorsOfImmunity

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clinimmsoc.bsky.social @clinimmsoc.bsky.social · 25d

Our colleagues reminded us about DADA-2 at the wonderfully organized NICER consortium meeting last week!

What have we learnt in the last 10 years? Drs. Ehlers and Meyts elegantly described it all here!

www.sciencedirect.com/science/arti...

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Reposted

Journal of Human Immunity @jhumimmunity.org · 27d

Clinical challenges following early detection of #AtaxiaTelangiectasia through SCID newborn screening. A new review from Thomas Weitering, Mirjam van der Burg et al. @unileiden.bsky.social

Clinical challenges following early detection of ataxia telangiectasia through SCID newborn screening | Journal of Human Immunity | Rockefeller University Press

Ataxia telangiectasia is a genetic disorder involving neurodegeneration, immunodeficiency, and cancer risk. It can be identified as incidental finding in n

rupress.org

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clinimmsoc.bsky.social @clinimmsoc.bsky.social · 27d

Register NOW for the ECI October Case Conference! 🩺

Join us Tuesday, Oct 7th at 7pm CT to dive into a fascinating case: "Severe Mycobacterial Infection in an Infant: inflammation as friend or foe?"

FREE registration. Don't miss out! 👇
us02web.zoom.us/webinar/regi...

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clinimmsoc.bsky.social @clinimmsoc.bsky.social · Sep 19

New from Akalu et al.: “An mRNA-based broad-spectrum antiviral inspired by ISG15 deficiency protects against viral infections in vitro and in vivo” (Sci Transl Med).

Article link: www.science.org/doi/10.1126/...

An mRNA-based broad-spectrum antiviral inspired by ISG15 deficiency protects against viral infections in vitro and in vivo

A human inborn error of immunity guided discovery and development of a prophylactic, mRNA-based antiviral.

www.science.org

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clinimmsoc.bsky.social @clinimmsoc.bsky.social · Sep 17

Time is running out!

Expand your network and deepen your involvement in the immunology community!

Explore our open committees and find where you can make a difference:
clinimmsoc.org/CIS/About/Co...

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Reposted

Journal of Human Immunity @jhumimmunity.org · Sep 17

Phantom of the immunologic opera: Unmasking the role of innate lymphoid cells (ILC) in #InbornErrorsOfImmunity (IEI). New review from Ahmet Eken (Erciyes University, Türkiye), Sara Johnson, Serife Erdem, and Elena Hsieh @cuanschutz.bsky.social: rupress.org/jhi/article/...

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clinimmsoc.bsky.social @clinimmsoc.bsky.social · Sep 12

JIA is where pediatric rheumatology meets immunology!

Let’s dive into the latest NEJM Review on childhood-onset chronic arthritis - covering its clinical features, genetics, immunology, and much more by Drs. Sandborg, Schulert, and Kimura. www.nejm.org/doi/full/10....

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clinimmsoc.bsky.social @clinimmsoc.bsky.social · Sep 10

Reminder: Less than one week to register for the first ECI Case Conference Webinar of the '25-'26 season!
us02web.zoom.us/webinar/regi...

clinimmsoc.bsky.social @clinimmsoc.bsky.social · Aug 27

Join the ECI September Case Conference Webinar on immune deficiencies! Discuss interesting cases & learn from peer presentations.

Sept 16, 7:00pm CT.

Register here: us02web.zoom.us/webinar/regi...

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clinimmsoc.bsky.social @clinimmsoc.bsky.social · Sep 4

Looking to expand your network and deepen your involvement in the immunology community?

Explore our open committees and find where you can make a difference:
clinimmsoc.org/CIS/About/Co...

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Reposted

Journal of Human Immunity @jhumimmunity.org · Sep 1

Our September issue is here! rupress.org/jhi/issue/1/3
Image shows an E13 embryonic thymus from a 22q11.2 deletion syndrome mouse model exhibiting a unique expansion of Sox9-expressing chondrocytes (green) within PDGFRA+ mesenchymal cells (red). From Bhalla et al. rupress.org/jhi/article/...

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clinimmsoc.bsky.social @clinimmsoc.bsky.social · Aug 27

Join the ECI September Case Conference Webinar on immune deficiencies! Discuss interesting cases & learn from peer presentations.

Sept 16, 7:00pm CT.

Register here: us02web.zoom.us/webinar/regi...

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Reposted

Bogunovic Lab @bogunoviclab.bsky.social · Aug 22

Hot off the press!

Journal of Human Immunity @jhumimmunity.org · Aug 18

@bogunoviclab.bsky.social reviews how incomplete penetrance in genetic disorders can be influenced by genetic variant quality, genetic and epigenetic modification, environment, and mosaicism. rupress.org/jhi/article/...

#InbornErrorsOfImmunity

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clinimmsoc.bsky.social @clinimmsoc.bsky.social · Aug 19

Your membership just became more powerful! Access ready-to-use advocacy letter templates in the Members Only section.
Access here: clinimmsoc.org/CIS/Membersh...

Disclaimer: These templates serve as guidelines only. CIS is not responsible for financial or clinical outcomes resulting from their use.

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Reposted

Journal of Human Immunity @jhumimmunity.org · Aug 19

Abolhassani, Hammarstrom, Grimbacher et al. show that the presence of a second TNFRSF13B mutation, HLA class II markers, or multiple single nucleotide variants in patients helps to explain the incomplete penetrance of immunodeficiency in carriers of TNFRSF13B mutations. rupress.org/jhi/article/...

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Reposted

Journal of Human Immunity @jhumimmunity.org · Aug 12

22q11.2 deletion syndrome causes thymic hypoplasia. In an embryonic mouse model, Bhalla, van Oers et al. show that Sox9-expressing chondrocytes expand in the hypoplastic thymuses & identify minoxidil as a therapeutic agent rupress.org/jhi/article/...

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Reposted

Journal of Human Immunity @jhumimmunity.org · Aug 11

Thalhammer, Frey, Schäfer @uni-freiburg.de et al. identify a large, previously unknown deletion of 12 protein-coding genes in X-linked chronic granulomatous disease with McLeod phenotype (MLP). rupress.org/jhi/article/...

#InbornErrorsOfImmunity

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Reposted

Journal of Human Immunity @jhumimmunity.org · Feb 26

Journal of Human Immunity (JHI) @jhumimmunity.org is here! Read the inaugural editorial by @casanovalab.bsky.social outlining #JHI’s vision as the destination for groundbreaking research in human immunity and inborn errors of immunity. https://buff.ly/4hRGpOb
#OpenAccess

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clinimmsoc.bsky.social @clinimmsoc.bsky.social · Aug 6

The Council of the Clinical Immunology Society developed a vision statement to ensure that its mission to advance the field of clinical immunology is matched by a vision that represents its core values.

Click the link below to learn more.
ow.ly/rMrs50TFPuC

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