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
In new report, Wang, Freeman et al. summarize the clinical phenotypes, immunologic findings, treatment, and outcomes of 10 patients with Phosphoglucomutase-3 (PGM3) deficiency rupress.org/jhi/article/...
@clinimmsoc.bsky.social
@clinimmsoc.bsky.social
December 12, 2025 at 5:15 PM
In new report, Wang, Freeman et al. summarize the clinical phenotypes, immunologic findings, treatment, and outcomes of 10 patients with Phosphoglucomutase-3 (PGM3) deficiency rupress.org/jhi/article/...
@clinimmsoc.bsky.social
@clinimmsoc.bsky.social
I can’t think of a better inaugural “How I Treat” for this new @jhumimmunity.org series - expert guidance from Alexandra Freeman, Beth Thielen, and Tamara Pozos on a topic relevant for all clinical immunologists - prevention and treatment of infection #inbornerrorsofimmunity @clinimmsoc.bsky.social
Freeman, Thielen @thie0149.bsky.social and Pozos provide practical advice on prevention, diagnosis, and management of infections in #InbornErrorsOfImmunity as well as management of common complications such as bronchiectasis. rupress.org/jhi/article/...
#HowITreat
@clinimmsoc.bsky.social
#HowITreat
@clinimmsoc.bsky.social
December 21, 2025 at 4:43 PM
I can’t think of a better inaugural “How I Treat” for this new @jhumimmunity.org series - expert guidance from Alexandra Freeman, Beth Thielen, and Tamara Pozos on a topic relevant for all clinical immunologists - prevention and treatment of infection #inbornerrorsofimmunity @clinimmsoc.bsky.social
Reposted by Megan Cooper
A new series in @jhumimmunity.org:
How I Treat: Infections and inborn errors of immunity—Prevention, diagnosis, and treatment url: rupress.org/jhi/article/...
How I Treat: Infections and inborn errors of immunity—Prevention, diagnosis, and treatment url: rupress.org/jhi/article/...
How I Treat: Infections and inborn errors of immunity—Prevention, diagnosis, and treatment | Journal of Human Immunity | Rockefeller University Press
Freeman et al. provide practical advice on prevention, diagnosis, and management of infections in inborn errors of immunity as well as management of common
rupress.org
December 16, 2025 at 3:29 PM
A new series in @jhumimmunity.org:
How I Treat: Infections and inborn errors of immunity—Prevention, diagnosis, and treatment url: rupress.org/jhi/article/...
How I Treat: Infections and inborn errors of immunity—Prevention, diagnosis, and treatment url: rupress.org/jhi/article/...
Reposted by Megan Cooper
Clinical experience with #emapalumab treatment in a group of children with primary hemophagocytic lymphohistiocytosis. A new study from Yulia Rodina et al.: rupress.org/jhi/article/...
#Therapeutics #Hemophagocytosis
#Therapeutics #Hemophagocytosis
December 18, 2025 at 2:52 PM
Clinical experience with #emapalumab treatment in a group of children with primary hemophagocytic lymphohistiocytosis. A new study from Yulia Rodina et al.: rupress.org/jhi/article/...
#Therapeutics #Hemophagocytosis
#Therapeutics #Hemophagocytosis
Reposted by Megan Cooper
Yulia Rodina et al. explore the use of #emapalumab, an interferon gamma inhibitor, in seven children with primary hemophagocytic lymphohistiocytosis. rupress.org/jhi/article/...
#Therapeutics #hemophagocytosis
#Therapeutics #hemophagocytosis
December 11, 2025 at 4:47 PM
Yulia Rodina et al. explore the use of #emapalumab, an interferon gamma inhibitor, in seven children with primary hemophagocytic lymphohistiocytosis. rupress.org/jhi/article/...
#Therapeutics #hemophagocytosis
#Therapeutics #hemophagocytosis
Excited to see our update on the clinical disease and treatments for TLR8 GOF (INFLTR8) out now! We now report a total of 10 patients, including a female patient as this is a rare X linked DOMINANT genetic error of immunity - both germline and mosaic
ashpublications.org/bloodadvance...
ashpublications.org/bloodadvance...
Clinical Characteristics, Management, and Hematopoietic Cell Transplantation of Patients with TLR8 Gain-of-Function
Key Points. TLR8 GOF is an X-linked dominant disease that should be considered in both male and female patients with cytopenia and immune dysregulation.Pat
ashpublications.org
December 12, 2025 at 5:24 PM
Excited to see our update on the clinical disease and treatments for TLR8 GOF (INFLTR8) out now! We now report a total of 10 patients, including a female patient as this is a rare X linked DOMINANT genetic error of immunity - both germline and mosaic
ashpublications.org/bloodadvance...
ashpublications.org/bloodadvance...
Reposted by Megan Cooper
Recurrent severe viral infection in a child with inherited complete TBK1 deficiency. New study from Sara Sebnem Kilic (Bursa Uludag University), Shuxiang Zhao (@rockefeller.edu) and colleagues: rupress.org/jhi/article/...
@casanovalab.bsky.social
@clinimmsoc.bsky.social
#InbornErrorsOfImmunity
@casanovalab.bsky.social
@clinimmsoc.bsky.social
#InbornErrorsOfImmunity
December 10, 2025 at 3:45 PM
Recurrent severe viral infection in a child with inherited complete TBK1 deficiency. New study from Sara Sebnem Kilic (Bursa Uludag University), Shuxiang Zhao (@rockefeller.edu) and colleagues: rupress.org/jhi/article/...
@casanovalab.bsky.social
@clinimmsoc.bsky.social
#InbornErrorsOfImmunity
@casanovalab.bsky.social
@clinimmsoc.bsky.social
#InbornErrorsOfImmunity
Reposted by Megan Cooper
Kilic, Zhao et al. report a child w/ a homozygous TBK1 mutation previously linked to #autoinflammation, suggesting its role in recurrent severe viral infections; the patient died from acute disseminated #encephalomyelitis. rupress.org/jhi/article/...
@casanovalab.bsky.social
@clinimmsoc.bsky.social
@casanovalab.bsky.social
@clinimmsoc.bsky.social
December 3, 2025 at 5:02 PM
Kilic, Zhao et al. report a child w/ a homozygous TBK1 mutation previously linked to #autoinflammation, suggesting its role in recurrent severe viral infections; the patient died from acute disseminated #encephalomyelitis. rupress.org/jhi/article/...
@casanovalab.bsky.social
@clinimmsoc.bsky.social
@casanovalab.bsky.social
@clinimmsoc.bsky.social
Reposted by Megan Cooper
Human inborn errors of the alternative NF-κB pathway. New review from Tom Le Voyer, Jean-Laurent Casanova @casanovalab.bsky.social, and Anne Puel @anne-puel.bsky.social: rupress.org/jhi/article/...
#InbornErrorsOfImmunity
#InbornErrorsOfImmunity
November 28, 2025 at 2:30 PM
Human inborn errors of the alternative NF-κB pathway. New review from Tom Le Voyer, Jean-Laurent Casanova @casanovalab.bsky.social, and Anne Puel @anne-puel.bsky.social: rupress.org/jhi/article/...
#InbornErrorsOfImmunity
#InbornErrorsOfImmunity
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