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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

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...

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

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

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...

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.

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/...

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...

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/...

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....

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

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...

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/...

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...

Hot off the press!

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.

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/...

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/...

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

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

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