From variants to answers: The evolution of genetic counseling in IEI. New Perspective from Blanca García-Solís, Rebeca Pérez de Diego, and Silvia Sánchez-Ramón (Hospital Clínico San Carlos): rupress.org/jhi/article/...
#Diagnostics #InbornErrorsOfImmunity
@esidsociety.bsky.social
Apolipoproteins L involvement in immunity. New Perspective from Etienne Pays @ulbruxelles.bsky.social: rupress.org/jhi/article/...
#Infections #autoantibodies #InbornErrorsOfImmunity #ImmunologicalPhenotypes
Hematopoietic stem cell transplantation as a curative treatment for Nck-associated protein 1-like (HEM1) deficiency: A first case report. From Julian Thalhammer, Wadih Abou Chahla @chulille.bsky.social and colleagues: rupress.org/jhi/article/...
#InbornErrorsOfImmunity #Therapeutics #HSCT
Perspective: Garcia-Solis et al. examine genetic testing advances in #InbornErrorsOfImmunity, highlighting challenges in variant interpretation and the need for standardized approaches. rupress.org/jhi/article/...
Perspective @jhumimmunity.org: Garcia-Solis et al. examine genetic testing advances in #InbornErrorsOfImmunity, highlighting challenges in variant interpretation and the need for standardized approaches. rupress.org/jhi/article/...
Polyclonal evolution of lymphoproliferative disorders in XLP1. New study from Dan Tomomasa, Akira Nishimura, Hirokazu Kanegane (Institute of Science Tokyo) and colleagues: rupress.org/jhi/article/...
#InbornErrorsOfImmunity
Unmanipulated bone marrow infusion without conditioning can rescue RECQL4-/- severe combined immunodeficiency. New study from Alexandra Grier and colleagues @chopresearch.bsky.social: rupress.org/jhi/article/...
#ClinicalPhenotypes #immunodeficiencies #InbornErrorsOfImmunity #SCID #HSCT
Tomomasa, Nishimura, Kanegane et al. investigated #tumorigenesis mechanisms through transcriptomic profiling and somatic variant analysis in tumor samples from six patients with X-linked lymphoproliferative syndrome type 1 (XLP1). rupress.org/jhi/article/...
#InbornErrorsOfImmunity
Oncostatin M receptor deficiency as a novel candidate genetic cause of autosomal recessive hyper-IgE syndrome. New study from Sisse Andersen, Kristian Assing, Trine H. Mogensen and colleagues @au.dk: rupress.org/jhi/article/...
#InbornErrorsOfImmunity #immunodeficiencies #InfectiousDiseases
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
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
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
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
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
In @jhumimmunity.org, 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
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
Adolescents with #InbornErrorsOfImmunity face school hurdles. Lopez-Seguer, Riviere, Soler-Palacin et al. @vallhebron.com call for co-developed, teacher-facing protocols with authorities and patient groups. rupress.org/jhi/article/...
#IEI #RareDisease #Peds #Education
@esidsociety.bsky.social
Adolescents with #InbornErrorsOfImmunity face school hurdles. In @jhumimmunity.org, Lopez-Seguer, Riviere, Soler-Palacin et al. @vallhebron.com call for co-developed, teacher-facing protocols with authorities and patient groups. rupress.org/jhi/article/...
#IEI #RareDisease #Peds #Education
Human TBK1 deficiency: An expanded spectrum from #autoinflammation to viral #encephalitis. New report from Yemsratch Akalu, Dusan Bogunovic @bogunoviclab.bsky.social @columbiamed.bsky.social and colleagues: rupress.org/jhi/article/...
#InbornErrorsOfImmunity
@clinimmsoc.bsky.social
Beyond survival: Multisystem long-term outcomes following #HSCT in chronic granulomatous disease. New study from Valentina Guarnieri, Reem Elfeky and colleagues @greatormondst.bsky.social: rupress.org/jhi/article/...
#InbornErrorsOfImmunity #immunodeficiencies #CGD
@esidsociety.bsky.social
Guarnieri, Elfeky et al. @greatormondst.bsky.social report long-term outcomes after #HSCT in children with chronic granulomatous disease. While survival is excellent, a wide range of autoimmune and organ-specific late effects emerge. rupress.org/jhi/article/...
#CGD #InbornErrorsOfImmunity
Novel #TLR7 gain-of-function variant and review of the associated disease spectrum. New study from Maud Tusseau, Claire Desvignes, Anne-Laure Mathieu, Alexandre Belot et al. @ciri-lyon.bsky.social @inserm.fr: rupress.org/jhi/article/...
@esidsociety.bsky.social
#InbornErrorsOfImmunity #Lupus
Explore the 2025 𝘉𝘦𝘴𝘵 𝘰𝘧 𝘑𝘌𝘔 papers in basic #immunology, #immunotherapy and #TumorImmunology, #InbornErrorsOfImmunity, #neurodegeneration, and #inflammation 👉 rupress.org/jem/collecti...
THANK YOU to our authors, reviewers, and readers for your interest and continued support for JEM!
TLR7 F507S gain-of-function mutation presenting with early-onset #SLE and #hypertriglyceridemia: Response to JAK inhibition. New report from Nima Parvaneh, Vahid Ziaee and colleagues (Tehran University of Medical Sciences): rupress.org/jhi/article/...
#Autoinflammation #InbornErrorsOfImmunity
Viral infection and brain #inflammation with seizures in PARK7 deficiency. New study from Jonas Lønskov, Annika Sünderhauf, Sisse Andersen, Trine H. Mogensen @au.dk and colleagues: rupress.org/jhi/article/...
#InbornErrorsOfImmunity #SevereImmunodeficiencies
Immune dysregulation from a novel CTLA-4 haploinsufficiency variant. New study from Nina N. Brodsky, Saquib A. Lakhani and colleagues @yaleschoolofmed.bsky.social: rupress.org/jhi/article/...
#InbornErrorsOfImmunity
2️⃣ Yamashita, Kanegane et al. present a questionnaire-based study that provides insights into the current healthcare infrastructure used to diagnose & manage #InbornErrorsOfImmunity across countries & regions involved in the Asia-Pacific Society for Immunodeficiencies rupress.org/jhi/article/...
5️⃣ #InbornErrorsOfImmunity affecting the MHC class I pathway for antigen presentation. A review from Stephan Gadola, Hans-Gustaf Ljunggren and colleagues 👉 rupress.org/jhi/article/...
