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

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

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/...

Human inborn errors of the alternative NF-κB pathway url: rupress.org/jhi/article/...

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

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!

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/...

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

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

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

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

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

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...

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

Don't forget sequencing the promoter !

A WAS promoter variant underlying Wiskott-Aldrich syndrome in two kindreds url: rupress.org/jhi/article/...

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/...

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

Another exciting collaborative paper in the @jhumimmunity.org:

Two different forms of inherited human TCRα chain deficiency url: rupress.org/jhi/article/...

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

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

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:
clinimmsoc.org/CIS/About/Co...

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...