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Journal of Human Immunity

@jhumimmunity.org

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Journal of Human Immunity (JHI) is the official open access journal of the International Alliance for Primary Immunodeficiency Societies (IAPIDS). Published by @rupress.org 🌐 jhumimmunity.org

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Journal of Human Immunity @jhumimmunity.org · Feb 26

Journal of Human Immunity (JHI) @jhumimmunity.org is here! Read the inaugural editorial by @casanovalab.bsky.social outlining #JHI’s vision as the destination for groundbreaking research in human immunity and inborn errors of immunity. https://buff.ly/4hRGpOb
#OpenAccess

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Journal of Human Immunity @jhumimmunity.org · 18h

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

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Journal of Human Immunity @jhumimmunity.org · 1d

Tahereh Noori, Aaqib Zaffar Banday, Ilia Voskoboinik et al use recently developed in vitro technology to define the function of a previously uncharacterized STX11 mutation L135P in a patient w/ atypical familial hemophagocytic lymphohistiocytosis. rupress.org/jhi/article/...
@petermaccc.bsky.social

Partial STX11 deficiency due to a hypomorphic variant—self-limiting inflammatory disease preceding HLH onset | Journal of Human Immunity | Rockefeller University Press

Recently developed in vitro technology was used to define the function of a previously uncharacterized STX11 mutation L135P present in a patient with atypi

rupress.org

Journal of Human Immunity @jhumimmunity.org · 1d

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

#Staphylococcus #Ubiquitin

Journal of Human Immunity @jhumimmunity.org · 2d

Tiago Santos de Oliveira, Antonio Condino-Neto et al. describe #CGD #epidemiology in Latin America, highlighting high infection risks, limited treatment options, & poor survival rates, especially for males with XL-CGD. rupress.org/jhi/article/...
#InbornErrorsOfImmunity
@lasidofficial.bsky.social

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Journal of Human Immunity @jhumimmunity.org · 2d

Toward universal screening for disease-causing alleles: Mendelian susceptibility to mycobacterial disease as a model. A Perspective by Farida Almarzooqi and Ahmed Aziz Bousfiha: rupress.org/jhi/article/...

#Mycobacteria #Tuberculosis #TB

Toward universal screening for disease-causing alleles: Mendelian susceptibility to mycobacterial disease as a model | Journal of Human Immunity | Rockefeller University Press

This Perspective proposes universal genomic screening as a life-course strategy, using Mendelian susceptibility to mycobacterial disease as a model to demo

rupress.org

Journal of Human Immunity @jhumimmunity.org · 5d

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

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Journal of Human Immunity @jhumimmunity.org · 7d

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

Journal of Human Immunity @jhumimmunity.org · 8d

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

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Journal of Human Immunity @jhumimmunity.org · 9d

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/...

Journal of Human Immunity @jhumimmunity.org · 12d

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/...

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Journal of Human Immunity @jhumimmunity.org · 14d

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

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Journal of Human Immunity @jhumimmunity.org · 20d

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!

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Journal of Human Immunity @jhumimmunity.org · 21d

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

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Journal of Human Immunity @jhumimmunity.org · 21d

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/...

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Journal of Human Immunity @jhumimmunity.org · 23d

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

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Reposted by Journal of Human Immunity

TRAstonDrs @castltrastondrs.bsky.social · 27d

#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

Journal of Human Immunity @jhumimmunity.org · Aug 18

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

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Journal of Human Immunity @jhumimmunity.org · 27d

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

Minoxidil restore thymic growth in 22q11.2 deletion syndrome by limiting Sox9+ chondrocyte expansion

Minoxidil restores thymic growth in 22q11.2 deletion syndrome by limiting Sox9+ chondrocyte expansion Original paper: doi.org/10.70962/jhi.20250143 Video summary by Pratibha Bhalla (The University…

youtu.be

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Journal of Human Immunity @jhumimmunity.org · 28d

🎥 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

Treatment of severe refractory immune neutropenia with ruxolitinib: Two cases

Original paper: https://rupress.org/jhi/article/1/4/e20250131/278307/Treatment-of-severe-refractory-immune-neutropenia (doi.org/10.70962/jhi.20250131) Video summary by Richard Schwarzkopf and Andrew…

youtu.be

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Journal of Human Immunity @jhumimmunity.org · 28d

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/...

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Journal of Human Immunity @jhumimmunity.org · Sep 8

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/...

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Journal of Human Immunity @jhumimmunity.org · Sep 4

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

Minoxidil restore thymic growth in 22q11.2 deletion syndrome by limiting Sox9+ chondrocyte expansion

Minoxidil restores thymic growth in 22q11.2 deletion syndrome by limiting Sox9+ chondrocyte expansion Original paper: doi.org/10.70962/jhi.20250143 Video summary by Pratibha Bhalla (The University…

youtu.be

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Journal of Human Immunity @jhumimmunity.org · Sep 1

🔔 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

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Journal of Human Immunity @jhumimmunity.org · Sep 1

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/...

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Journal of Human Immunity @jhumimmunity.org · Aug 29

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

A compound heterozygous case of leukocyte adhesion deficiency type-1 with moderate CD18 expression and severe disease | Journal of Human Immunity | Rockefeller University Press

Recurrent pneumonias and skin infections with persistent leukocytosis are concerning for leukocyte adhesion deficiency type-1. Intermittently normal neutro

rupress.org

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Journal of Human Immunity @jhumimmunity.org · Aug 26

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

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