#InbornErrorsofImmunity
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macattacklab.bsky.social
Excited for support to uncover mechanisms of #primaryimmunedeficiencies #inbornerrorsofimmunity with friends @bogunoviclab.bsky.social and Josh Milner
washumedicine.bsky.social WashU Medicine @washumedicine.bsky.social · Aug 25
When rare and undiagnosed conditions feel hopeless, science can unlock answers. Thanks to a new $12.4M NIH grant, WashU Medicine’s Megan Cooper, MD, deepens her work studying genetic causes to better diagnose and treat children with rare immune disorders medicine.washu.edu/news/researc...
Research explores genetics underlying immune system disorders | WashU Medicine
A $12 million NIH grant awarded to Megan Cooper, MD, PhD, will support the effort to understand and diagnose immune deficiencies.
medicine.washu.edu
August 30, 2025 at 4:48 PM
jhumimmunity.org
High prevalence of #autoantibodies neutralizing type I IFNs in Japanese patients with #hepatitis C. New study from Maki Taniguchi, Satoshi Okada and colleagues (Hiroshima University):
rupress.org/jhi/article/...

#Autoimmunity #Infections #InbornErrorsOfImmunity
September 23, 2026 at 1:45 PM
dremmye.bsky.social
We present an "Update on #InbornErrorsofImmunity" in JACI. Coauthored with Hanna IJspeert, Robyn O'Hehir, Virgil Dalm & Menno van Zelm. A great collaborative effort between Erasmus MC, Monash University Alfred Health. #JMFMelbourne #PrimaryImmunodeficiency
www.jacionline.org/article/S009...
DEFINE_ME
www.jacionline.org
January 11, 2025 at 10:03 PM
jhumimmunity.org
Intronic branchpoint-to-acceptor variants underlying #InbornErrorsOfImmunity. New study from Najiba Alioua, Jérémie Rosain @jrosain.bsky.social @hopitalnecker.bsky.social and colleagues: rupress.org/jhi/article/...
July 24, 2025 at 3:31 PM
jhumimmunity.org
The first JHI articles are online! Poli et al present the 2024 update of the @iuis-online.bsky.social classification of #InbornErrorsOfImmunity (rupress.org/jhi/article/...) & Bousfiha et al provide an accompanying phenotypic classification to assist clinical diagnoses (rupress.org/jhi/article/...)
April 15, 2025 at 7:04 PM
jem.org
New review from Schmitz et al. @macattacklab.bsky.social explores the identification of somatic variants as a cause of #InbornErrorsOfImmunity, including the identification of somatic variants and the mechanisms by which they might lead to immunologic disease. rupress.org/jem/article/...
April 15, 2025 at 4:19 PM
jhumimmunity.org
Human inborn errors of the alternative NF-κB pathway. New review from Tom Le Voyer, Jean-Laurent Casanova @casanovalab.bsky.social, and Anne Puel @anne-puel.bsky.social: rupress.org/jhi/article/...

#InbornErrorsOfImmunity
November 28, 2025 at 2:30 PM
jhumimmunity.org
Human #InbornErrorsOfImmunity: 2024 update on the classification from the @iuis-online.bsky.social Expert Committee: rupress.org/jhi/article/...

See also the accompanying diagnostic guide by Bousfiha et al.: rupress.org/jhi/article/...
April 23, 2025 at 4:19 PM
jhumimmunity.org
@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
August 18, 2025 at 5:30 PM
jhumimmunity.org
Refractory infantile #IPEX with Treg-restricted FOXP3null expression caused by a novel variant in #FOXP3. New study from Ahmad Rayes, Rosa Bacchetta and colleagues @uofuhealth.bsky.social: rupress.org/jhi/article/...

#InbornErrorsOfImmunity #Autoimmunity
@clinimmsoc.bsky.social
April 3, 2026 at 2:15 PM
jhumimmunity.org
IKZF-associated inborn errors of immunity. New review from Motoi Yamashita and Tomohiro Morio @sciencetokyo.bsky.social: rupress.org/jhi/article/...

#InbornErrorsOfImmunity
July 25, 2025 at 2:45 PM
eballestar.bsky.social
🎉 Delighted to announce that our #EPPerMEd Joint Transnational Call 2024 #PROMISE project has been awarded. Joining forces with Grimbacher, Bock, Moschese, VanNieuwenhohe & Schulze ! Mining #InbornErrorsofImmunity for Personalized Therapeutic Strategies in Non-monogenic Inflammatory Disorders
November 19, 2024 at 4:23 PM
jhumimmunity.org
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
August 25, 2025 at 7:02 PM
jhumimmunity.org
Toward a monogenic architecture of human infections: from 1996 to 2026. New Perspective from Jean-Laurent Casanova @casanovalab.bsky.social:
rupress.org/jhi/article/...

#InbornErrorsOfImmunity #Autoimmunity #autoantibodies #ImmunologicalPhenotypes
@clinimmsoc.bsky.social @esidsociety.bsky.social
April 3, 2026 at 1:30 PM
macattacklab.bsky.social
Important talk on disparities in diagnosis of #inbornerrorsofimmunity happening now at #CIS2025
May 2, 2025 at 2:18 PM
jhumimmunity.org
The seven enigmas of #SARSCoV2: From the past to the future. New review from Evangelos Andreakos, Helen Su, Jean-Laurent Casanova (@casanovalab.bsky.social) and colleagues: rupress.org/jhi/article/...

#InbornErrorsOfImmunity #InfectiousDiseases #PopulationGenetics
October 31, 2025 at 2:45 PM
jhumimmunity.org
Two different forms of inherited human TCR⍺ chain deficiency. New study from Marie Materna, Vivien Béziat (@vbeziat.bsky.social‬) and colleagues @institutimagine.bsky.social‬: rupress.org/jhi/article/...

#TCellDeficiencies #immunodeficiencies #InbornErrorsOfImmunity
June 11, 2025 at 3:25 PM
jem.org
Monogenic disorders of the IRF transcription factors. New review from Mattison Stojcic, Pariya Yousefi, Catherine Biggs, and Stuart Turvey @turveylab.bsky.social: rupress.org/jem/article/...

#Immunodeficiency #HumanDiseaseGenetics #GenesAndImmunity #InbornErrorsOfImmunity
November 28, 2025 at 8:45 PM
jhumimmunity.org
Freeman, Thielen @thie0149.bsky.social and Pozos provide practical advice on prevention, diagnosis, and management of infections in #InbornErrorsOfImmunity as well as management of common complications such as bronchiectasis. rupress.org/jhi/article/...

#HowITreat
@clinimmsoc.bsky.social
December 16, 2025 at 7:58 PM
jhumimmunity.org
How I Treat: Immune dysregulation in #DownSyndrome. Melissa Gans (University of Miami Miller School of Medicine) and colleagues propose actionable insights:
rupress.org/jhi/article/...

#HowITreat #Autoimmunity #InbornErrorsOfImmunity
@bogunoviclab.bsky.social
May 11, 2026 at 7:30 PM
jhumimmunity.org
Tobin and @macattacklab.bsky.social review #InbornErrorsOfImmunity that can present with rheumatologic and #autoimmune complications and the role of genetic testing for establishing a molecular diagnosis & devising personalized treatment plans to improve patient outcomes. rupress.org/jhi/article/...
July 23, 2025 at 5:15 PM
jhumimmunity.org
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/...
September 10, 2025 at 7:15 PM
rupress.org
New review @jem.org from Schmitz et al. @macattacklab.bsky.social explores the identification of somatic variants as a cause of #InbornErrorsOfImmunity, including the identification of somatic variants and the mechanisms by which they might lead to immunologic disease. rupress.org/jem/article/...
April 15, 2025 at 4:29 PM
jem.org
The 2025 𝘉𝘦𝘴𝘵 𝘰𝘧 𝘑𝘌𝘔 highlights research in basic #immunology, #immunotherapy & #TumorImmunology, #InbornErrorsOfImmunity, #neurodegeneration, & #inflammation. We remain grounded in our commitment to publishing studies that push the boundaries of our knowledge forward 👉 rupress.org/jem/collecti...
December 17, 2025 at 3:15 PM
jhumimmunity.org
Ribosomal RNA processing impairments in a B cell immunodeficient patient with WDR75 variants. New study from Nidia Moreno-Corona, Sven Kracker @institutimagine.bsky.social and colleagues:
rupress.org/jhi/article/...

#RareDisease #ClinicalPhenotypes #InbornErrorsOfImmunity
May 13, 2026 at 2:30 PM