Everything you always wanted to know about Cartilage-hair hypoplasia but never dared asking: Cartilage-hair hypoplasia: A comprehensive review url: rupress.org/jhi/article/...

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

A previous report described an inherited deficiency of IL-18BP in an Algerian patient who died of fulminant viral hepatitis (FVH) A. Abd Elaziz et al. now report an Egyptian family with two siblings who died from FVH following infection with hepatitis A virus. rupress.org/jhi/article/...

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...

Thomas Weitering, Mirjam van der Burg et al. @unileiden.bsky.social review the available literature on newborn screening outcomes and neonatal TREC levels in patients with #AtaxiaTelangiectasia, as well as the available symptomatic treatment options

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...

New review from Ahmet Eken, Elena Hsieh et al. unmasks the significant, yet understudied, role of innate lymphoid cells in #InbornErrorsOfImmunity. The authors examine how these “behind the scenes” immune components contribute to monogenetic immune disorders rupress.org/jhi/article/...

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

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...

Incomplete penetrance in inborn errors of immunity: A skeleton in the closet—The sequel. New review from Dusan Bogunovic @bogunoviclab.bsky.social @columbiamed.bsky.social: rupress.org/jhi/article/... #InbornErrorsOfImmunity

New video summary 🎥 from a study by Pratibha Bhalla et al. (rupress.org/jhi/article/...) showing that Minoxidil restores thymic growth in 22q11.2 deletion syndrome by limiting Sox9+ chondrocyte expansion: youtu.be/8M7qQELxQ8g

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/...

1/ Join us on 24 Sept 2025 at the @institutimagine.bsky.social in Paris for the Novo Nordisk Prize Symposium: Inborn Errors of Immunity. Registration is free at: my.weezevent.com/novo-nordisk...

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...

Excited for support to uncover mechanisms of #primaryimmunedeficiencies #inbornerrorsofimmunity with friends @bogunoviclab.bsky.social and Josh Milner

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/...

After a shooter fired hundreds of rounds at the headquarters of the US Centers for Disease Control and Prevention earlier this month, more than 750 current and former HHS staffers implored Secretary Robert F. Kennedy, Jr. in a letter to “stop spreading inaccurate health information.”

@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

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/...

Ian Lamborn, Helen Su et al. @niaidnews.bsky.social review MAGIS clinical features, current genetic and biochemical understanding, and future therapeutic considerations. rupress.org/jhi/article/... #ClinicalPhenotypes #InbornErrorsOfImmunity #Diagnostics

Thanks @stevestonedraws.bsky.social - always excited to see your artwork!

Characterization of the first patient with disseminated coccidioidomycosis and autosomal dominant STAT1 deficiency. New report from Aidé Tamara Staines-Boone, Lizbeth Blancas-Galicia (National Institute of Pediatrics, Mexico) and colleagues: rupress.org/jhi/article/... #InbornErrorsOfImmunity

New Perspective article from Buckey and Heimall @childrensphila.bsky.social describes the #ethical #dilemmas encountered by #clinical #immunologists in the evaluation of an inborn error of immunity. rupress.org/jhi/article/... #InbornErrorsOfImmunity

Staines-Boone, Blancas-Galicia and colleagues characterize a new genetic predisposition to coccidiodomycosis. Autosomal dominant STAT1 deficiency is a monogenic defect that increases susceptibility to coccidioidomycosis in humans. rupress.org/jhi/article/... #InbornErrorsOfImmunity #Diagnostics

Case-based evidence links increased #SARSCoV2 diversity to impaired IFN-I response in severe #COVID19. New report from David Bussy, Sophie Trouillet-Assant and colleagues (Université Claude Bernard, @inserm.fr @cnrs.fr): rupress.org/jhi/article/... #Infections #AutoAntibodies

#STAT1-GOF is characterized by infections & #autoimmunity. Buddingh, Schuetz et al report overall survival after allogeneic #HSCT in an international cohort of 36 patients is 72.2%. Pre-treatment w/ JAK inhibitors is associated w/ better event-free survival rupress.org/jhi/article/...

Rheumatologic and autoimmune features of inborn errors of immunity: Implications for diagnosis and management. New review from Joshua Tobin and Megan Cooper @macattacklab.bsky.social @washumedicine.bsky.social: rupress.org/jhi/article/... #Autoinflammation #InbornErrorsOfImmunity #Autoimmunity

Intronic branchpoint-to-acceptor variants underlying #InbornErrorsOfImmunity. New study from Najiba Alioua, Jérémie Rosain @jrosain.bsky.social @hopitalnecker.bsky.social and colleagues: rupress.org/jhi/article/...

Great review of what is becoming a more ‘common’ IEI with diverse phenotypes emerging

1/ Join us on 24 Sept 2025 at the @institutimagine.bsky.social in Paris for the Novo Nordisk Prize Symposium: Inborn Errors of Immunity. Registration is free at: my.weezevent.com/novo-nordisk...

Tobin and @macattacklab.bsky.social review #InbornErrorsOfImmunity that can present with rheumatologic and #autoimmune complications and the role of genetic testing for establishing a molecular diagnosis & devising personalized treatment plans to improve patient outcomes. rupress.org/jhi/article/...

Mosaic STAT5B gain-of-function associated with demyelinating disease and #autoimmunity. New study from Erica Schmitt, Megan Cooper @macattacklab.bsky.social @washumedicine.bsky.social and colleagues: rupress.org/jhi/article/... #SomaticSenetics #Therapeutics #ClinicalPhenotypes

Type 1 Diabetes is not reversible but acknowledging that would get in the way of the ableism that allows the organization our Health Secretary founded to grift off parents of sick kids

A remarkable patient and great work led by Erica Schmitt. The patient had significant CNS inflammatory disease treated with a JAKinib then HCT leading to remission after discovery of mosaic STAT5B GOF! Also a good lesson for the clinic - variant was detected in blood but not a clinical buccal swab

You hear that kids? Get a damn job.

@alneehus.bsky.social‬, @romberglab.bsky.social‬ and @bloodgenes.bsky.social‬ review how genetic variation impacts early B cell development, & discuss inherited rare variants & more common polymorphisms that predispose to B cell-related immune disorders & malignancies rupress.org/jhi/article/...

Fantastic talk by Yasmine Belkaid @institutpasteur.bsky.social at #FOCIS2025, and lots of interest from the audience #maternalfetalimmunology

[email protected]‬, @romberglab.bsky.social‬ and @bloodgenes.bsky.social‬ review how genetic variation impacts early B cell development, & discuss inherited rare variants & more common polymorphisms that predispose to B cell-related immune disorders & malignancies rupress.org/jhi/article/...

Great case showing efficacy of topical JAK inhibitor for facial rash in STAT1 GOF, highlighting need for local therapy for organ specific symptoms in this and other JAK/STAT disorders @jhumimmunity.org

#InbornErrorsOfImmunity affecting the MHC class I pathway for antigen presentation. New review from Stephan Gadola, Hans-Gustaf Ljunggren and colleagues @ki.se: rupress.org/jhi/article/... #ClinicalPhenotypes

Two different forms of inherited human TCR⍺ chain deficiency. New study from Marie Materna, Vivien Béziat (@vbeziat.bsky.social‬) and colleagues @institutimagine.bsky.social‬: rupress.org/jhi/article/... #TCellDeficiencies #immunodeficiencies #InbornErrorsOfImmunity

Spondyloenchondrodysplasia: An enigmatic immuno-osseus type I #interferonopathy. New review from Callie Wong, Tifenn Wauquier, Yanick Crow and colleagues @institutimagine.bsky.social @uoe-igc.bsky.social‬: rupress.org/jhi/article/... #Autoinflammation

Rare #InbornErrorsOfImmunity affecting MHC class I expression can cause chronic infections and be mistaken for #autoimmune disease. New research highlights the need for infection-focused care and long-term follow-up. New review from Gadola, Ljunggren et al. @ki.se: rupress.org/jhi/article/...

Announcing an official fundraising campaign to support my lab’s research on APOE4 and Alzheimer’s disease: joinus.cuimc.columbia.edu/participant/.... This campaign is itself an experiment of sorts. But mostly, it's an attempt to save my lab during an unprecedented time of turmoil in academia. 1/9

Materna, @vbeziat.bsky.social‬ et al. @institutimagine.bsky.social‬ report children with complete TCRα deficiency, a lack of αβ T cells, & a severe condition. Previously characterized TCRα deficiency, which wasn't as severe as expected, was partial, as opposed to complete rupress.org/jhi/article/...

“By identifying & promoting good science, treating authors with decency and respect, and ensuring quality of peer review, editors nurture the reputation and quality of journals” editorial by our sister journal @lsajournal.org's‬ @timisstuck.bsky.social‬: www.life-science-alliance.org/content/8/5/...

I'm Dr. Annie Andrews. I’m a pediatrician, not a politician. But either way I know how to handle people who are full of sh*t. Today I am announcing my campaign for US Senate to replace Lindsey Graham. Share this if you're with me. www.youtube.com/watch?v=J8wM...

Important talk on disparities in diagnosis of #inbornerrorsofimmunity happening now at #CIS2025

Very proud of #JoshTobin who gave a fantastic talk on his discovery of a unique genetic mechanism for antibody deficiency #CIS2025