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 wanted to know about cartilage-hair hypoplasia: Svetlana Vakkilainen reviews 60 years of CHH research, covering genetic aspects, pathogenesis, clinical & laboratory features, as well as diagnostic & management considerations rupress.org/jhi/article/... #InbornErrorsOfImmunity

Tristan van der Linden, András Spaan et al. describe and characterize six unrelated patients with #OTULIN #haploinsufficiency, in whom severe #necrosis followed infectious and/or traumatic triggers. rupress.org/jhi/article/... #Staphylococcus #Ubiquitin

In this Perspective, Farida Almarzooqi & Ahmed Aziz Bousfiha propose universal genomic screening as a life-course strategy, using Mendelian susceptibility to #mycobacteria as a model to demonstrate feasibility in high-consanguinity populations rupress.org/jhi/article/...

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/...

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

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!

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

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/...

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

#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

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

🎥 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

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/...

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 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

🔔 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

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/...

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

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

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

🔔 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

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

Hot off the press!

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/...

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

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

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/...

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

@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

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

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

Ian Lamborn, Helen Su et al. @niaidnews.bsky.social review MAGIS clinical features, current genetic and biochemical understanding, and future therapeutic considerations. rupress.org/jhi/article/... #ClinicalPhenotypes #InbornErrorsOfImmunity #Diagnostics

Ethical and equitable considerations when establishing a diagnosis of an inborn error of immunity. New perspective from Timothy Buckey and Jennifer Heimall @childrensphila.bsky.social: rupress.org/jhi/article/... #InbornErrorsOfImmunity

Kribis et al. @lucasite-lab.bsky.social report a patient with recurrent respiratory infections and bronchiectasis due to an atypical splice-site PIK3R1 variant causing APDS2. Functional studies confirmed PI3Kδ hyperactivation. rupress.org/jhi/article/... #InbornErrorsOfImmunity

22q11.2 deletion syndrome causes thymic hypoplasia. In an embryonic mouse model, Bhalla, van Oers et al. show that Sox9-expressing chondrocytes expand in the hypoplastic thymuses & identify minoxidil as a therapeutic agent rupress.org/jhi/article/...

Thalhammer, Frey, Schäfer @uni-freiburg.de et al. identify a large, previously unknown deletion of 12 protein-coding genes in X-linked chronic granulomatous disease with McLeod phenotype (MLP). rupress.org/jhi/article/... #InbornErrorsOfImmunity

Our figure made the cover of the Journal of Human Immunity! :-) The paper explores how defects in the MHC class I antigen presentation pathway lead to severe immune dysfunction, impaired pathogen and tumor control, and clinical manifestations of inborn errors of immunity.

New Perspective article from Buckey and Heimall @childrensphila.bsky.social describes the #ethical #dilemmas encountered by #clinical #immunologists in the evaluation of an inborn error of immunity. rupress.org/jhi/article/... #InbornErrorsOfImmunity

Improved outcome of #HSCT in #STAT1 gain-of-function disease following JAK inhibition bridging. A new report from Emilie Pauline Buddingh, Catharina Schuetz et al. rupress.org/jhi/article/... #Autoimmunity #InbornErrorsofImmunity #Immunodeficiencies #Therapeutics

Characterization of the first patient with disseminated coccidioidomycosis and autosomal dominant STAT1 deficiency. New report from Aidé Tamara Staines-Boone, Lizbeth Blancas-Galicia (National Institute of Pediatrics, Mexico) and colleagues: rupress.org/jhi/article/... #InbornErrorsOfImmunity

Mepolizumab treatment in a child with inherited TYK2 deficiency. New report from Aurélia Alimi, TYK2-consortium, Stephanie Wanin, Stephanie Boisson-Dupuis, and Paul Bastard @hopitalnecker.bsky.social @casanovalab.bsky.social: rupress.org/jhi/article/... #InbornErrorsOfImmunity

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

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

#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/...

Serological diagnosis of chronic skin granulomas caused by wild-type or vaccine-derived rubella virus in patients with inherited HLA class I deficiency. From Léa Luciani @univ-amu.fr, Vivien Béziat @vbeziat.bsky.social @hopitalnecker.bsky.social and colleagues: rupress.org/jhi/article/...

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

Alimi, Bastard @hopitalnecker.bsky.social et al. report the case of a patient with complete TYK2 deficiency and virally induced hypereosinophilia and respiratory failure who responded to IL-5 blockade. rupress.org/jhi/article/... #InbornErrorsOfImmunity

Great review of what is becoming a more ‘common’ IEI with diverse phenotypes emerging

Description of invasive #aspergillosis in Mexican patients with chronic granulomatous disease. New study from Tiareth Cova-Guzmán, Lizbeth Blancas-Galicia and colleagues (National Institute of Pediatrics, Mexico): rupress.org/jhi/article/... #ClinicalPhenotypes #InbornErrorsOfImmunity #Diagnostics