Journal of Human Immunity

Grier et al. @childrensphila.bsky.social report that mutations in DNA helicase RECQL4 can cause immunodeficiency, including #SCID. The T cell defects are intrinsic to the hematopoietic system and amenable to hematopoietic stem cell transplant. rupress.org/jhi/article/...

@romberglab.bsky.social

Join us in congratulating our EiC Jean-Laurent Casanova on his 2026 Nemmers Prize in Medical Science! @casanovalab.bsky.social discovered the genetic causes of more than 20 infections, including severe COVID pneumonia. From @feinberg.northwestern.edu 👉 news.northwestern.edu/stories/2026...

Today, @jhumimmunity.org published its 100th paper, in only one year !! 😊

Bes-Berlandier, Lanternier et al @hopitalnecker.bsky.social describe the characteristics & clinical outcomes of chronic granulomatosis disease patients undergoing hematopoietic stem cell transplantation within 2 years after an invasive mold infection diagnosis rupress.org/jhi/article/...

#CGD #HSCT

🎥 JHI’s Editor-in-Chief Jean-Laurent Casanova shares the vision behind JHI and what sets the journal apart in the rapidly evolving field of human immunity. Watch the full video and learn more about publishing in JHI here 👉 rupress.org/jhi/pages/pu...

Human ISG15 deficiency unveils impaired healing of ulcerations via type I interferon–mediated fibrosis. New study from Christos Sazeides, Dusan Bogunovic @bogunoviclab.bsky.social and colleagues @columbiauniversity.bsky.social: rupress.org/jhi/article/...

#InbornErrorsOfImmunity

TLR7 mutations leading to enhanced TLR7 signaling in humans. Crow @uoe-igc.bsky.social and Gantier discuss three recent studies in JHI (doi.org/10.70962/jhi..., doi.org/10.70962/jhi..., and doi.org/10.70962/jhi...) in News & Views: rupress.org/jhi/article/...

Identification of a novel TLR7 gain-of-function variant that underlies systemic lupus erythematosus. New study from Aiswarya Sethumadhavan, Charles Mariasoosai, Natsuko Yamakawa, Hedieh Torabifard @utdallas.bsky.social, Eric Meffre @stanfordmedicine.bsky.social et al.: rupress.org/jhi/article/...

Andersen, Assing, Mogensen et al. @au.dk describe a patient with #asthma, pulmonary #aspergillosis, and elevated IgE homozygous for a deleterious variant in the oncostatin M receptor. rupress.org/jhi/article/...

#InbornErrorsOfImmunity #immunodeficiencies #InfectiousDiseases #PopulationGenetics

Wågström, Nyström et al. @liu.se report that poor pneumococcal antibody protection and low IgG2 levels predict the need for continuous immunoglobulin therapy in IgG subclass deficiency, highlighting the delayed benefit of Ig replacement therapy rupress.org/jhi/article/...

Our March issue is here! rupress.org/jhi/issue/2/2
In this issue, Zhou et al. (rupress.org/jhi/article/...) describe four patients with three new MCTS1 alleles. MCTS1 mutations are typically truncating and lead to complete or near-complete loss-of-function.

🎥 JHI’s Editor-in-Chief Jean-Laurent Casanova shares the vision behind JHI and what sets the journal apart in the rapidly evolving field of human immunity. Watch the full video and learn more about publishing in JHI here 👉 rupress.org/jhi/pages/pu...

Novel molecular assays for monitoring T cell function after HSCT in two siblings with variants in DCLRE1C. New study from Anna Lyytikäinen, Pegah Johansson and colleagues (Sahlgrenska University Hospital): rupress.org/jhi/article/...

#SCID #CellDivisionAssay #FlowCytometry #DNARepair #DSB #NHEJ

Quality of life of X-linked agammaglobulinemia patients in the United Kingdom. New study from Ben Shillitoe @sheffieldchildrens.bsky.social and colleagues: rupress.org/jhi/article-...

#ClinicalPhenotypes #ImmunologicalPhenotypes #InbornErrorsOfImmunity

Three recent studies in JHI (doi.org/10.70962/jhi..., doi.org/10.70962/jhi..., and doi.org/10.70962/jhi...) extend our understanding of the genetic, molecular, and clinical characteristics of human disease associated with a gain of TLR7-mediated signaling. rupress.org/jhi/article/...

Sazeides et al. @bogunoviclab.bsky.social show that human ISG15 deficiency is a monogenic syndrome that poises individuals to a proapoptotic and profibrotic state that can lead to lung and skin damage with scarring and impaired function via chronic inflammation. rupress.org/jhi/article/...

Sethumadhavan, Mariasoosai, Yamakawa, Torabifard, Meffre et al. report a novel TLR7 gain-of-function (GOF) variant associated with autoimmunity in a male patient, which further highlights TLR7's essential role in SLE pathogenesis. rupress.org/jhi/article/...

Inborn errors of immunity: Manifestation, treatment, and outcome—an ESID registry 1994–2024 report on 30,628 patients Worldwide, most patient registries for IEI are national, with limited geographical/temporal scope. This 30-year ESID registry analysis of 30,628 patients’

See Reply to the Letter from Markus G. Seidel @seidellab.bsky.social: rupress.org/jhi/article/...

See recent article on the ESID registry from Kindle and Alligon et al. rupress.org/jhi/article/...

The early history of the ESID Registry. In this Letter to the Editor, Roberto Paganelli (UniCamillus) describes the history of the @esidsociety.bsky.social registry, with the help of original documents of the precursor EGID going back to 1994. rupress.org/jhi/article/...

#InbornErrorsOfImmunity

TLR7 mutations leading to enhanced TLR7 signaling in humans Three studies in this issue of JHI extend our understanding of the genetic, molecular, and clinical characteristics of human disease associated with a gain

This is the first News & Views of @jhumimmunity.org and it is a must-read !
TLR7 mutations leading to enhanced TLR7 signaling in humans url: rupress.org/jhi/article/...

Identification of a novel TLR7 gain-of-function variant that underlies systemic lupus erythematosus Sethumadhavan, Mariasoosai, Yamakawa et al. report a novel TLR7 gain-of-function (GOF) variant associated with autoimmunity in a male patient, which furthe

Another TLR7 GOF:
Identification of a novel TLR7 gain-of-function variant that underlies systemic lupus erythematosus url: rupress.org/jhi/article/...

Hematopoietic stem cell transplant with a carrier donor rescues CD40L deficiency. New case report from Christen L. Ebens @umnpeds.bsky.social, Amir A. Sadighi Akha @mayoclinic.org and colleagues: rupress.org/jhi/article/...

#InbornErrorsOfImmunity #Therapeutics #HSCT

Inborn errors of immunity at school: How can we do better? New study from Laura Lopez-Seguer, Jacques G. Riviere, Pere Soler-Palacin and colleagues @vallhebron.com: rupress.org/jhi/article/...

#InbornErrorsOfImmunity #IEI #immunodeficiencies #RareDisease #Peds #Education
@esidsociety.bsky.social

Lyytikäinen, Johansson et al. report two novel assays to characterize T cell function in two patients with DCLRE1C variants diagnosed with leaky severe combined immunodeficiencies (#SCID). rupress.org/jhi/article/...

#SCID #PrimaryImmunodeficiency #InbornErrorsOfImmunity #HSCT #ClinicalImmunology

Lymphoproliferation in #InbornErrorsOfImmunity: From challenging diagnosis to histologic revision. New study from Mattia Moratti, Caterina Cancrini @unibo.it and colleagues: rupress.org/jhi/article-...

@esidsociety.bsky.social

Expanding the scope of human immunology in the Journal of Human Immunity. New Editorial from Petter Brodin @petterbrodin.bsky.social, Megan Cooper @macattacklab.bsky.social, Jean-Laurent Casanova @casanovalab.bsky.social, and colleagues in the JHI Editorial team:

An assessment of UK XLA patients by Shillitoe et al. reveals that bronchiectasis, present in the majority of adults, is strongly associated with diminished quality of life.

Reply to Paganelli's letter, from Markus Seidel @seidellab.bsky.social: rupress.org/jhi/article/...

Letter to the Editor: Following on from the recent paper by Kindle et al. (rupress.org/jhi/article/...), Roberto Paganelli describes the history of the ESID (@esidsociety.bsky.social) registry, with the help of original documents of the precursor EGID going back to 1994. rupress.org/jhi/article/...

Ebens, Akha et al. demonstrate successful allogeneic #HSCT of CD40L deficiency using an asymptomatic carrier mother donor, with achievement of 32% CD40L expression, recovery of thymopoiesis, normal T cell diversity and functional outcomes of T and B cell interactions. rupress.org/jhi/article/...