We report a 5'UTR variant in YEATS4 that confers resistance to tuberculosis through altering the translation of the YEATS4 open-reading frame! Congrats to Clement Conil and colleagues at @casanovalab.bsky.social! It was fun to help with this story! link.springer.com/article/10.1...

Another exciting collaborative paper in the @jhumimmunity.org: Two different forms of inherited human TCRα chain deficiency 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

A novel heterozygous pathogenic AIRE variant causing autoimmunity but not infectious susceptibility url: rupress.org/jhi/article/...

This epidemiological study of #CGD in Latin America by Tiago Santos de Oliveira, Antonio Condino-Neto et al. emphasizes the need for better diagnosis, newborn screening, regional treatment guidelines, & expanded access to effective therapies rupress.org/jhi/article/... @lasidofficial.bsky.social

Partial STX11 deficiency due to a hypomorphic variant—self-limiting inflammatory disease preceding HLH onset. A new Research Letter from Tahereh Noori, Aaqib Zaffar Banday, Ilia Voskoboinik et al. rupress.org/jhi/article/... 🎥 See short video summary: youtu.be/cYSBIU0lh6U #Immunodeficiency

Last Friday members of our NY lab braved the chilly fall weather to lunch on Bánh Mì al fresco. This HGID crew is a hardy bunch that doesn’t let much stand in their way!

In @jhumimmunity.org, Vemula, Pinzon-Charry et al. describe a novel heterozygous variant in AIRE in 3 individuals w/ 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/...

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

Partial STX11 deficiency due to a hypomorphic variant—self-limiting inflammatory disease preceding HLH onset url: rupress.org/jhi/article/...

Clinical features, genotypes, and geographic distribution of 238 Latin American CGD patients url: rupress.org/jhi/article/...

Inherited IL-18BP deficiency in two Egyptian siblings with fulminant viral hepatitis. A report by Dalia Abd Elaziz, Alperen Baran, Aysima Atilgan Lulecioglu, Hanaa El-Karaksy, @casanovalab.bsky.social, Serkan Belkaya, Emmanuelle Jouanguy et al. rupress.org/jhi/article/... #InbornErrorsOfImmunity

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/...

Novel genotypes, phenotypes, and triggers in humans with OTULIN haploinsufficiency url: rupress.org/jhi/article/...

1/ This week we spotlight @ariasaas.bsky.social, a postdoc and visiting prof in our New York Branch from 2020 – 2022 and now a full professor at University of Antioquia, Medellín, Colombia. During his training, he worked in our mycobacterium research team on the human genetic causes of TB

The question is not IF but WHEN: Toward universal screening for disease-causing alleles: Mendelian susceptibility to mycobacterial disease as a model url: rupress.org/jhi/article/...

Fulminant viral hepatitis is less and less "idiopathic": Inherited IL-18BP deficiency in two Egyptian siblings with fulminant viral hepatitis url: rupress.org/jhi/article/...

1/ We are celebrating the Novo Nordisk Prize Symposium: Inborn Errors of Immunity – a huge success yesterday at the @institutimagine.bsky.social in Paris featuring talks by 19 leading European researchers on human IEI

The potential impacts of human genetics on virus emergence - PubMed ->National Library of Medicine | #Virus | More info from BigEarthData.ai

For #PeerReviewWeek's AI focus, we want to take a moment to thank the people behind the peer review process. Our position is that rigorous peer review demands direct accountability that only human reviewers can provide. Thank you for all that you do!

Clinical challenges following early detection of ataxia telangiectasia through SCID newborn screening url: rupress.org/jhi/article/...

Schwarzkopf, Chen, Chen, et al @dalhousie.bsky.social describe two cases of severe refractory immune #neutropenia: One with T-large granular lymphocyte leukemia & one with chronic idiopathic neutropenia. Both cases responded well to the JAK inhibitor #ruxoltinib rupress.org/jhi/article/...

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/...

🎥 New video summary from Richard Schwarzkopf and Andrew Chen (rupress.org/jhi/article/...) describing their paper on the treatment of severe refractory immune neutropenia with ruxolitinib in two cases. youtu.be/DE-OeHYUb1U

Minoxidil restores thymic growth in 22q11.2 deletion syndrome by limiting Sox9+ chondrocyte expansion. New study from Pratibha Bhalla, Nicolai van Oers and colleagues (UT Southwestern Medical Center): rupress.org/jhi/article/... See a short video summary 🎥 youtu.be/8M7qQELxQ8g

#Medsky🧪 #IDsky #Casereport #publichealth #Disseminatedgonococcalinfection :A rare but serious complication of Neisseria gonorrhoeae infection. Invasion of the bloodstream by N. gonorrhoeae can lead to #septicarthritis, polyarthralgia, tenosynovitis, rash & less commonly #meningitis or #endocarditis

Treatment of severe refractory immune #neutropenia with #ruxolitinib: Two cases. New report from Richard Schwarzkopf, Andrew Chen, Luke Chen & colleagues @dalhousie.bsky.social @ubcmedicine.bsky.social: rupress.org/jhi/article/... 🎥 See video summary: youtu.be/DE-OeHYUb1U #ImmunologicalPhenotypes

Phantom of the immunologic opera: Unmasking the role of innate lymphoid cells (ILC) in #InbornErrorsOfImmunity (IEI). New review from Ahmet Eken (Erciyes University, Türkiye), Sara Johnson, Serife Erdem, and Elena Hsieh @cuanschutz.bsky.social: rupress.org/jhi/article/...

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

Treatment of severe refractory immune neutropenia with ruxolitinib: Two cases url: rupress.org/jhi/article/...

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...

Non-cryopreserved Kx negative packed red cell concentrates to support hematopoietic stem cell transplantation in McLeod contiguous gene deletion syndrome. New report by Julian Thalhammer, Beat Frey, Richard Schäfer @uni-freiburg.de and colleagues: rupress.org/jhi/article/... #InbornErrorsOfImmunity

Almpani, Ram, Wang et al. @umasschan.bsky.social report a case of disseminated gonococcal infection linked to #complement factor I (FI) deficiency, with a prior vasculitis-like episode. rupress.org/jhi/article/... #ComplementDisorders

@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

Minoxidil restores thymic growth in 22q11.2 deletion syndrome by limiting Sox9+ chondrocyte expansion. New study from Pratibha Bhalla, Nicolai van Oers and colleagues (The University of Texas Southwestern Medical Center): rupress.org/jhi/article/... #immunodeficiencies #InbornErrorsOfImmunity

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/...

Functional validation of PIK3R1 variant causing activated phosphoinositide 3-kinase-δ syndrome 2 with hypogammaglobulinemia & bronchiectasis. New report from Marat Kribis, Carrie Lucas @lucasite-lab.bsky.social et al @yaleschoolofmed.bsky.social: rupress.org/jhi/article/... #InbornErrorsOfImmunity

MAGIS syndrome: Phenotypes, pathogenesis, and treatment. New review from Ian Lamborn, Helen Su and colleagues @niaidnews.bsky.social: rupress.org/jhi/article/... #ClinicalPhenotypes #InbornErrorsOfImmunity #Diagnostics

Brozyna et al. report describe a compound heterozygous leukocyte adhesion deficiency type-1 patient with severe disease, despite exhibiting a moderate integrin expression profile. rupress.org/jhi/article/...

Hot off the press!

Disseminated gonococcal infection secondary to a rare homozygous mutation resulting in #complement factor I deficiency. New report from Marianna Almpani, Sanjay Ram, Jennifer Wang and colleagues @umasschan.bsky.social: rupress.org/jhi/article/... #ComplementDisorders

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

Re-evaluation of the contribution of TNFRSF13B variants to antibody deficiency. New study from Hassan Abolhassani, Lennart Hammarstrom @ki.se, Bodo Grimbacher @uni-freiburg.de and colleagues: rupress.org/jhi/article/... #InbornErrorsOfImmunity #InfectiousDiseases #PopulationGenetics

A compound heterozygous case of leukocyte adhesion deficiency type-1 with moderate CD18 expression and severe disease. New report from Jeremy Brozyna and colleagues (University of Alabama at Birmingham): rupress.org/jhi/article/... #InbornErrorsOfImmunity #ImmunologicalPhenotypes

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/...

🔔 We're delighted to share the Abstracts from the 9th Biennial African Society for Immunodeficiencies (#ASID) Congress which took place June 25–27, 2025, in Nairobi. Explore the latest advancements in #PID clinical practice and research 👉 rupress.org/jhi/issue/1/... #IAPIDS

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

Happy birthday to #LaskerLaureate Max D. Cooper! He discovered 2 distinct classes of lymphocytes, B and T cells, an achievement that provided the organizing principle of adaptive immunity. ow.ly/G0Eo50JS8hu 📖: laskerfoundation.org/getting-defe... 📺 :https://www.youtube.com/watch?v=aQsa6ol3Y2A 🧪

🔔 We're delighted to share the Abstracts from the 9th Biennial African Society for Immunodeficiencies (#ASID) Congress which took place June 25–27, 2025, in Nairobi, Kenya. Explore the latest advancements in #PID clinical practice and research 👉 rupress.org/jhi/issue/1/... #IAPIDS

A compound heterozygous case of leukocyte adhesion deficiency type-1 with moderate CD18 expression and severe disease url: rupress.org/jhi/article/...