Megan Cooper
@macattacklab.bsky.social
Pediatric Rheumatology & Immunology, #immunology, #immunodeficiency, #inbornerrorsofimmunity, #genetics, all opinions my own | https://megancooperlab.wustl.edu
Pinned
Megan Cooper
@macattacklab.bsky.social
· 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
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
Reposted by Megan Cooper
New review from Voyer, @casanovalab.bsky.social, & @anne-puel.bsky.social synthesizes human inborn errors of the alternative NF-κB pathway, highlighting their shared and distinct effects on lymphoid development, immune dysregulation, and mTEC-mediated tolerance rupress.org/jhi/article/...
November 21, 2025 at 5:00 PM
New review from Voyer, @casanovalab.bsky.social, & @anne-puel.bsky.social synthesizes human inborn errors of the alternative NF-κB pathway, highlighting their shared and distinct effects on lymphoid development, immune dysregulation, and mTEC-mediated tolerance rupress.org/jhi/article/...
Reposted by Megan Cooper
Human inborn errors of the alternative NF-κB pathway url: rupress.org/jhi/article/...
Human inborn errors of the alternative NF-κB pathway | Journal of Human Immunity | Rockefeller University Press
This review synthesizes human inborn errors of the alternative NF-κB pathway-affecting core components, upstream ligands/receptors, or regulators, or regul
rupress.org
November 21, 2025 at 3:43 PM
Human inborn errors of the alternative NF-κB pathway url: rupress.org/jhi/article/...
Reposted by Megan Cooper
Early identification of delayed-onset ADA deficiency: The case for expanded first-tier newborn screening. New report from Kristine Jeganathan, Anne Pham-Huy and colleagues (Children’s Hospital of Eastern Ontario @uottawa.ca): rupress.org/jhi/article/...
#InbornErrorsOfImmunity #Diagnostics
#InbornErrorsOfImmunity #Diagnostics
Early identification of delayed-onset ADA deficiency: The case for expanded first-tier newborn screening | Journal of Human Immunity | Rockefeller University Press
Standard newborn screening using T cell receptor excision circles (TRECs) failed to detect delayed-onset ADA deficiency in two cases. Retrospective mass sp
rupress.org
November 17, 2025 at 3:15 PM
Early identification of delayed-onset ADA deficiency: The case for expanded first-tier newborn screening. New report from Kristine Jeganathan, Anne Pham-Huy and colleagues (Children’s Hospital of Eastern Ontario @uottawa.ca): rupress.org/jhi/article/...
#InbornErrorsOfImmunity #Diagnostics
#InbornErrorsOfImmunity #Diagnostics
USIDNET is an important effort and resource that will enable us to better identify clinical features of inborn errors of immunity and the complications and treatment approaches that are important for us to care for patients. Congratulations to the team at CHOP leading this!
Vichare, Sullivan et al. assessed the United States Immunodeficiency Network (USIDNET), a suite of resources for clinical immunologists. The registry of patient data utilizes data extraction from electronic health records to minimize burden on participating sites. rupress.org/jhi/article/...
November 21, 2025 at 2:09 AM
USIDNET is an important effort and resource that will enable us to better identify clinical features of inborn errors of immunity and the complications and treatment approaches that are important for us to care for patients. Congratulations to the team at CHOP leading this!
Reposted by Megan Cooper
Jeganathan, Pham-Huy et al. @uottawa.ca report that standard newborn screening using T cell receptor excision circles (TRECs) failed to detect delayed-onset ADA deficiency in two cases. But retrospective MS/MS analysis showed diagnostic deoxyadenosine elevation at birth. rupress.org/jhi/article/...
November 10, 2025 at 5:00 PM
Jeganathan, Pham-Huy et al. @uottawa.ca report that standard newborn screening using T cell receptor excision circles (TRECs) failed to detect delayed-onset ADA deficiency in two cases. But retrospective MS/MS analysis showed diagnostic deoxyadenosine elevation at birth. rupress.org/jhi/article/...
Reposted by Megan Cooper
ORAI1 mutation with mixed loss- and gain-of-function properties causes #immunodeficiency and HLH, say Lucile Noyer (@Lucilenoyer.bsky.social) , Stefan Feske (@stefanfeske.bsky.social) and colleagues (NYU Grossman School of Medicine): rupress.org/jhi/article/...
#InbornErrorsOfImmunity
#InbornErrorsOfImmunity
November 6, 2025 at 7:45 PM
ORAI1 mutation with mixed loss- and gain-of-function properties causes #immunodeficiency and HLH, say Lucile Noyer (@Lucilenoyer.bsky.social) , Stefan Feske (@stefanfeske.bsky.social) and colleagues (NYU Grossman School of Medicine): rupress.org/jhi/article/...
#InbornErrorsOfImmunity
#InbornErrorsOfImmunity
Reposted by Megan Cooper
A 𝘞𝘈𝘚 promoter variant underlying Wiskott-Aldrich syndrome in two kindreds. New report from Pauline Ober, Christelle Lenoir, Jérémie Rosain @jrosain.bsky.social and collegues @upcite.bsky.social @hopitalnecker.bsky.social: rupress.org/jhi/article/...
#InbornErrorsOfImmunity #Diagnostics
#InbornErrorsOfImmunity #Diagnostics
November 6, 2025 at 2:31 PM
A 𝘞𝘈𝘚 promoter variant underlying Wiskott-Aldrich syndrome in two kindreds. New report from Pauline Ober, Christelle Lenoir, Jérémie Rosain @jrosain.bsky.social and collegues @upcite.bsky.social @hopitalnecker.bsky.social: rupress.org/jhi/article/...
#InbornErrorsOfImmunity #Diagnostics
#InbornErrorsOfImmunity #Diagnostics
Reposted by Megan Cooper
Calling all innovators in clinical immunology!
The Clinical Immunology Society is now accepting abstracts for the 2026 Annual Meeting in New Orleans!
Share your groundbreaking research on a premier stage. Submit today!
🔗 https://cis.clinimmsoc.org/education/meetings/am26/abstracts
#CIS2026
The Clinical Immunology Society is now accepting abstracts for the 2026 Annual Meeting in New Orleans!
Share your groundbreaking research on a premier stage. Submit today!
🔗 https://cis.clinimmsoc.org/education/meetings/am26/abstracts
#CIS2026
November 6, 2025 at 7:01 PM
Calling all innovators in clinical immunology!
The Clinical Immunology Society is now accepting abstracts for the 2026 Annual Meeting in New Orleans!
Share your groundbreaking research on a premier stage. Submit today!
🔗 https://cis.clinimmsoc.org/education/meetings/am26/abstracts
#CIS2026
The Clinical Immunology Society is now accepting abstracts for the 2026 Annual Meeting in New Orleans!
Share your groundbreaking research on a premier stage. Submit today!
🔗 https://cis.clinimmsoc.org/education/meetings/am26/abstracts
#CIS2026
Reposted by Megan Cooper
A systematic literature review of CVID reveals pervasive detrimental noninfectious manifestations. New study from Michelle Ducasa, Rebecca Marsh and colleagues: rupress.org/jhi/article/...
#ClinicalPhenotypes #InbornErrorsOfImmunity #Autoimmunity
#ClinicalPhenotypes #InbornErrorsOfImmunity #Autoimmunity
October 31, 2025 at 6:45 PM
A systematic literature review of CVID reveals pervasive detrimental noninfectious manifestations. New study from Michelle Ducasa, Rebecca Marsh and colleagues: rupress.org/jhi/article/...
#ClinicalPhenotypes #InbornErrorsOfImmunity #Autoimmunity
#ClinicalPhenotypes #InbornErrorsOfImmunity #Autoimmunity
Reposted by Megan Cooper
Already 53 phenomenal papers published in the @jhumimmunity.org ! Look it up and submit your best papers to the only journal focused on human inborn errors of immunity, their phenocopies, and related topics in human immunology:
rupress.org/jhi
rupress.org/jhi
Journal of Human Immunity | Rockefeller University Press
Journal of Human Immunity (JHI) publishes papers that provide novel insights into the physiology and pathology of human immunity through the study of genetic defects and their phenocopies, including t...
rupress.org
October 31, 2025 at 2:58 PM
Already 53 phenomenal papers published in the @jhumimmunity.org ! Look it up and submit your best papers to the only journal focused on human inborn errors of immunity, their phenocopies, and related topics in human immunology:
rupress.org/jhi
rupress.org/jhi
Reposted by Megan Cooper
JHI's November issue is here! rupress.org/jhi/issue/1/4
Cover shows how genetic and immunologic modifiers shape the penetrance of TNFRSF13B variants, redefining their contribution to antibody deficiency. From Abolhassani et al. See doi.org/10.70962/jhi...
Cover shows how genetic and immunologic modifiers shape the penetrance of TNFRSF13B variants, redefining their contribution to antibody deficiency. From Abolhassani et al. See doi.org/10.70962/jhi...
November 3, 2025 at 3:04 PM
JHI's November issue is here! rupress.org/jhi/issue/1/4
Cover shows how genetic and immunologic modifiers shape the penetrance of TNFRSF13B variants, redefining their contribution to antibody deficiency. From Abolhassani et al. See doi.org/10.70962/jhi...
Cover shows how genetic and immunologic modifiers shape the penetrance of TNFRSF13B variants, redefining their contribution to antibody deficiency. From Abolhassani et al. See doi.org/10.70962/jhi...
Reposted by Megan Cooper
Auto-Abs against type I IFNs: strong, common, and global determinants of severe #arboviral diseases. New review from Adrian Gervais, Alessandro Borghesi (@esibor.bsky.social), Jean-Laurent Casanova (@casanovalab.bsky.social), and Shen-Ying Zhang @inserm.fr: rupress.org/jhi/article/...
October 30, 2025 at 1:45 PM
Auto-Abs against type I IFNs: strong, common, and global determinants of severe #arboviral diseases. New review from Adrian Gervais, Alessandro Borghesi (@esibor.bsky.social), Jean-Laurent Casanova (@casanovalab.bsky.social), and Shen-Ying Zhang @inserm.fr: rupress.org/jhi/article/...
Great review from the experts - still lots to learn about this #inbornerrorofimmunity
New review: Nicolai van Oers and Kathleen Sullivan summarize 22q11.2 deletion syndrome, which has complex clinical presentations, with congenital malformations of the thymus leading to many immune system changes. rupress.org/jhi/article/...
@clinimmsoc.bsky.social
#InbornErrorsOfImmunity
@clinimmsoc.bsky.social
#InbornErrorsOfImmunity
October 30, 2025 at 9:11 PM
Great review from the experts - still lots to learn about this #inbornerrorofimmunity
Reposted by Megan Cooper
Don't forget sequencing the promoter !
A WAS promoter variant underlying Wiskott-Aldrich syndrome in two kindreds url: rupress.org/jhi/article/...
A WAS promoter variant underlying Wiskott-Aldrich syndrome in two kindreds url: rupress.org/jhi/article/...
A WAS promoter variant underlying Wiskott-Aldrich syndrome in two kindreds | Journal of Human Immunity | Rockefeller University Press
We report the same ultra-rare pathogenic noncoding single-nucleotide variant in the promoter of WAS in four male patients from two unrelated kindreds with
rupress.org
October 30, 2025 at 2:16 PM
Don't forget sequencing the promoter !
A WAS promoter variant underlying Wiskott-Aldrich syndrome in two kindreds url: rupress.org/jhi/article/...
A WAS promoter variant underlying Wiskott-Aldrich syndrome in two kindreds url: rupress.org/jhi/article/...
Reposted by Megan Cooper
A Review of auto-Abs neutralizing type I IFN in patients with arboviral diseases:
Auto-Abs against type I IFNs: Strong, common, and global determinants of severe arboviral diseases url: rupress.org/jhi/article/...
Auto-Abs against type I IFNs: Strong, common, and global determinants of severe arboviral diseases url: rupress.org/jhi/article/...
Auto-Abs against type I IFNs: Strong, common, and global determinants of severe arboviral diseases | Journal of Human Immunity | Rockefeller University Press
Autoantibodies neutralizing antiviral type I IFNs (AAN-I-IFN) underlie a small but growing number of severe arboviral diseases. These auto-Abs are strong,
rupress.org
October 24, 2025 at 1:19 PM
A Review of auto-Abs neutralizing type I IFN in patients with arboviral diseases:
Auto-Abs against type I IFNs: Strong, common, and global determinants of severe arboviral diseases url: rupress.org/jhi/article/...
Auto-Abs against type I IFNs: Strong, common, and global determinants of severe arboviral diseases url: rupress.org/jhi/article/...
Reposted by Megan Cooper
A novel heterozygous pathogenic AIRE variant causing #autoimmunity but not infectious susceptibility. New study from Mounavi Vemula, Alberto Pinzon-Charry (Children's Health Queensland) & colleagues: rupress.org/jhi/article/...
@anne-puel.bsky.social @casanovalab.bsky.social
#InbornErrorsOfImmunity
@anne-puel.bsky.social @casanovalab.bsky.social
#InbornErrorsOfImmunity
October 16, 2025 at 1:45 PM
A novel heterozygous pathogenic AIRE variant causing #autoimmunity but not infectious susceptibility. New study from Mounavi Vemula, Alberto Pinzon-Charry (Children's Health Queensland) & colleagues: rupress.org/jhi/article/...
@anne-puel.bsky.social @casanovalab.bsky.social
#InbornErrorsOfImmunity
@anne-puel.bsky.social @casanovalab.bsky.social
#InbornErrorsOfImmunity
Reposted by Megan Cooper
Another exciting collaborative paper in the @jhumimmunity.org:
Two different forms of inherited human TCRα chain deficiency url: rupress.org/jhi/article/...
Two different forms of inherited human TCRα chain deficiency url: rupress.org/jhi/article/...
Two different forms of inherited human TCRα chain deficiency | Journal of Human Immunity | Rockefeller University Press
Previous reports suggested that inherited TCRα deficiency is not as severe as expected. We report children with complete TCRα deficiency, a lack of αβ T ce
rupress.org
October 17, 2025 at 6:51 PM
Another exciting collaborative paper in the @jhumimmunity.org:
Two different forms of inherited human TCRα chain deficiency url: rupress.org/jhi/article/...
Two different forms of inherited human TCRα chain deficiency url: rupress.org/jhi/article/...
Reposted by Megan Cooper
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
#InbornErrorsOfImmunity
October 8, 2025 at 1:34 PM
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
#InbornErrorsOfImmunity
Reposted by Megan Cooper
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
#Autoimmunity
October 9, 2025 at 4:00 PM
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
#Autoimmunity
Reposted by 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/...
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
October 3, 2025 at 5:02 AM
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 url: rupress.org/jhi/article/...
Reposted by Megan Cooper
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
September 24, 2025 at 2:21 PM
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
Reposted by Megan Cooper
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/...
September 26, 2025 at 4:58 PM
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/...
Reposted by Megan Cooper
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...
What have we learnt in the last 10 years? Drs. Ehlers and Meyts elegantly described it all here!
www.sciencedirect.com/science/arti...
September 26, 2025 at 3:57 PM
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...
What have we learnt in the last 10 years? Drs. Ehlers and Meyts elegantly described it all here!
www.sciencedirect.com/science/arti...
Reposted by Megan Cooper
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
September 17, 2025 at 6:52 PM
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
Reposted by Megan Cooper
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...
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...
September 17, 2025 at 5:29 PM
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...
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...