Megan Cooper

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 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

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...

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

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:
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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

Minoxidil restores thymic growth in 22q11.2 deletion syndrome by limiting Sox9+ chondrocyte expansion Original paper: doi.org/10.70962/jhi.20250143 Video summary by Pratibha Bhalla (The University… Minoxidil restore thymic growth in 22q11.2 deletion syndrome by limiting Sox9+ chondrocyte expansion

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/...

Congratulations on the award and amazing group of scientists!

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:
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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/...

HHS staffers implore RFK Jr. to ‘stop spreading inaccurate health information’ in wake of CDC shooting | CNN More than 750 current and former staffers at the US Health and Human Services implored Secretary Robert F. Kennedy, Jr. in a letter Wednesday to “stop spreading inaccurate health information” after a ...

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/...