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Megan Cooper

@macattacklab.bsky.social

720 followers 810 following 33 posts

Pediatric Rheumatology & Immunology, #immunology, #immunodeficiency, #inbornerrorsofimmunity, #genetics, all opinions my own | https://megancooperlab.wustl.edu

megancooperlab.wustl.edu

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Megan Cooper @macattacklab.bsky.social · Jan 16

Very excited to help lead this effort with @casanovalab.bsky.social - working with IAPIDS this will be a premier home for important work in the field of human immunity and inborn errors of immunity

Journal of Human Immunity @jhumimmunity.org · Jan 16

Welcome to the future of #HumanImmunity research! @rupress.org and the International Alliance for Primary Immunodeficiency Societies (#IAPIDS) are launching the Journal of Human Immunity (JHI)! Stay tuned for groundbreaking, #OpenAccess research! 👉 https://buff.ly/4ajqm8W

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Reposted by Megan Cooper

Journal of Human Immunity @jhumimmunity.org · 12d

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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Reposted by Megan Cooper

Journal of Human Immunity @jhumimmunity.org · 11d

Vemula, Pinzon-Charry et al. describe a novel heterozygous variant in AIRE in 3 individuals with mild #APECED. This variant was validated as being pathogenic by a mechanism of negative dominance. This represents new cases of autosomal dominant APECED. rupress.org/jhi/article/...

#Autoimmunity

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Reposted by Megan Cooper

Casanova Lab @casanovalab.bsky.social · 18d

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/...

Cartilage-hair hypoplasia: A comprehensive review | Journal of Human Immunity | Rockefeller University Press

This comprehensive review of cartilage-hair hypoplasia (CHH) by Vakkilainen summarizes 60 years of CHH research, covering genetic aspects, pathogenesis, cl

rupress.org

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Reposted by Megan Cooper

Journal of Human Immunity @jhumimmunity.org · 26d

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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Reposted by Megan Cooper

Journal of Human Immunity @jhumimmunity.org · 24d

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/...

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Reposted by Megan Cooper

clinimmsoc.bsky.social @clinimmsoc.bsky.social · 24d

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 by Megan Cooper

Journal of Human Immunity @jhumimmunity.org · Sep 17

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

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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Reposted by Megan Cooper

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 by Megan Cooper

Journal of Human Immunity @jhumimmunity.org · Sep 10

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/...

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Reposted by Megan Cooper

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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Reposted by Megan Cooper

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 by Megan Cooper

Journal of Human Immunity @jhumimmunity.org · Aug 25

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

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Reposted by Megan Cooper

Journal of Human Immunity @jhumimmunity.org · Sep 4

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

Minoxidil restore thymic growth in 22q11.2 deletion syndrome by limiting Sox9+ chondrocyte expansion

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…

youtu.be

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Reposted by Megan Cooper

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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Megan Cooper @macattacklab.bsky.social · Sep 5

Congratulations on the award and amazing group of scientists!

Reposted by Megan Cooper

Casanova Lab @casanovalab.bsky.social · Sep 4

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...

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Reposted by Megan Cooper

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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Megan Cooper @macattacklab.bsky.social · Aug 30

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

WashU Medicine @washumedicine.bsky.social · Aug 25

When rare and undiagnosed conditions feel hopeless, science can unlock answers. Thanks to a new $12.4M NIH grant, WashU Medicine’s Megan Cooper, MD, deepens her work studying genetic causes to better diagnose and treat children with rare immune disorders medicine.washu.edu/news/researc...

Research explores genetics underlying immune system disorders | WashU Medicine

A $12 million NIH grant awarded to Megan Cooper, MD, PhD, will support the effort to understand and diagnose immune deficiencies.

medicine.washu.edu

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Reposted by Megan Cooper

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 by Megan Cooper

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 by Megan Cooper

CNN @cnn.com · Aug 20

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.”

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 ...

www.cnn.com

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Reposted by Megan Cooper

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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Reposted by Megan Cooper

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 by Megan Cooper

Journal of Human Immunity @jhumimmunity.org · Aug 14

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

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Megan Cooper @macattacklab.bsky.social · Aug 8

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

Stephen Stone, MD 🔬🧬🐁✏️ @stevestonedraws.bsky.social · Aug 8

🌟 Grand Rounds with Dr. Megan Cooper 🌟
One patient’s story can unlock diagnoses for dozens more. 🧬

From inborn errors of immunity to targeted therapies, genome sequencing is transforming care for #PrimaryImmuneDeficiency.

#Genomics #PrecisionMedicine #Pediatrics #RareDisease