Megan Cooper

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

Children's Health Defense @ChildrensHD Instead of normalizing diabetes for our children, our federal health agencies need to be educating the public on how to PREVENT and REVERSE this chronic disease. Is anyone else repulsed that companies like Mattel are capitalizing on sick children? (Quote tweeting a headline that reads:) Mattel launches Barbie with Type 1 diabetes and a glucose monitor The company said the new addition expands its representation and encourages play extending "beyond a child's own lived experience."

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

.@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/...

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/...

YouTube video by Annie Andrews Annie Andrews Launch Video: "Unafraid"

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

Inspiring start to #CIS2025 by president #ElieHaddad

#CIS2025 is starting! For those attending join us tomorrow, Friday, for a lunch discussion on publishing including information about our new journal @jhumimmunity.org #CIS, #IAPIDS

Congratulations, so well deserved!

Hajjar et al. identify distinct gut #microbiome profiles in common variable #immunodeficiency patients with noninfectious complications and establish a novel germ-free mouse model using fecal microbiota transplant. rupress.org/jhi/article/...