#InbornErrorsOfImmunity
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jhumimmunity.org
DOCK2 deficiency due to a novel cryptic splice site mutation. New report from Manisha Ahuja, Karin R. Engelhardt and colleagues @newcastleuni.bsky.social:
rupress.org/jhi/article/...

#InbornErrorsOfImmunity
November 2, 2026 at 3:45 PM
jhumimmunity.org
Characterizing hypertension in activated PI3K delta syndrome: Findings from Epic Cosmos. New study from Brianna Santiago, Jennifer Keelin, Xiaoqi Sun, and Christopher Chang (Joe DiMaggio Children’s Hospital):
rupress.org/jhi/article/...

#InbornErrorsOfImmunity
November 2, 2026 at 8:30 PM
jhumimmunity.org
TLR8 gain-of-function syndrome. New review from Hwi M. Gil and Megan A. Cooper @macattacklab.bsky.social @washumedicine.bsky.social:
rupress.org/jhi/article/...

#immunodeficiencies #InbornErrorsOfImmunity #TLR8
October 29, 2026 at 3:04 PM
jhumimmunity.org
The ups and downs of human #UNC93B1: Autoimmune and viral conditions. New review from Elina Idiiatullina, Jean-Laurent Casanova @casanovalab.bsky.social, and Shen-Ying Zhang @shenyingzhang1.bsky.social @rockefeller.edu:
rupress.org/jhi/article/...

#InbornErrorsOfImmunity #autoimmunity
October 27, 2026 at 3:04 PM
jhumimmunity.org
Characterization of a novel homozygous CTLA4 variant. new report from Tegan McTaggart, Jing Xuan Lim, Shoba Amarnath @newcastleuni.bsky.social, Ben Carpenter, Arian Laurence @uclh.bsky.social and colleagues:
rupress.org/jhi/article/...

#InbornErrorsOfImmunity #homozygous #CTLA4 #PID #Tregs
October 28, 2026 at 2:31 PM
jhumimmunity.org
Jeffrey’s Insights: Next-generation sequencing for primary #immunodeficiency diagnosis, 2019–2025. New study from Jessica Quinn (Jeffrey Modell Foundation) and colleagues: rupress.org/jhi/article/...

#Diagnostics #InbornErrorsOfImmunity
October 27, 2026 at 2:03 PM
jhumimmunity.org
Work participation in #InbornErrorsOfImmunity: The dual burden on patients and caregivers. New study from Federica Pulvirenti (Sapienza University Hospital Policlinico Umberto I) and colleagues:
rupress.org/jhi/article/...

#Therapeutics #ClinicalPhenotypes
October 29, 2026 at 1:31 PM
jhumimmunity.org
BCL10 deficiency: Long-term immune reconstitution following hematopoietic stem cell transplantation. New report from Marwa Ali, Anas M. Alazami, and Hamoud Al-Mousa (King Faisal Specialist Hospital & Research Center):
rupress.org/jhi/article/...

#InbornErrorsOfImmunity #HSCT
October 27, 2026 at 1:31 PM
jhumimmunity.org
Pretransplant immune dysregulation and survival after #HSCT in pediatric inborn errors of immunity. New study from Andrés Soffia, Arturo Borzutzky, and Cristián Sotomayor (Pontificia Universidad Católica de Chile):
rupress.org/jhi/article/...

#InbornErrorsOfImmunity
October 26, 2026 at 1:31 PM
rupress.org
In @jhumimmunity.org, Ahuja et al. describe three siblings with an #immunodeficiency who have a novel homozygous synonymous variant in DOCK2 that creates a defect in mRNA splicing, resulting in a frameshift and loss of DOCK2 protein expression rupress.org/jhi/article/...
#InbornErrorsOfImmunity
October 26, 2026 at 6:02 PM
jhumimmunity.org
Disease associations for rare immune genetic variants require statistical or rule-based support. New study from Paul E. Gray (Western Sydney University), Stuart G. Tangye @garvaninstitute.bsky.social, and Edwin P. Kirk (UNSW Sydney):
rupress.org/jhi/article/...

#Autoimmunity #InbornErrorsOfImmunity
Disease associations for rare immune genetic variants require statistical or rule-based support
Validating weak gene–disease associations requires statistical support from large case–control studies, whereas powerful associations may be demonstrated b
rupress.org
October 26, 2026 at 2:31 PM
jhumimmunity.org
Ahuja et al. @newcastleuni.bsky.social describe three siblings with an #immunodeficiency who have a novel homozygous synonymous variant in DOCK2 that creates a defect in mRNA splicing, resulting in a frameshift and loss of DOCK2 protein expression rupress.org/jhi/article/...
#InbornErrorsOfImmunity
October 26, 2026 at 4:45 PM
jhumimmunity.org
Higher serum sCD14 is an independent biomarker for porto-sinusoidal vascular disease risk in #CVID. New report from Laure Delaval, Guy Gorochov, Marion Malphettes @sorbonne-universite.fr @upcite.bsky.social and colleagues:
rupress.org/jhi/article/...

#ClinicalPhenotypes #InbornErrorsOfImmunity
October 23, 2026 at 1:31 PM
altskywarn.bsky.social
I am Jack's "partially recapituated human immunophenotype". #InbornErrorsofImmunity #primaryimmunodeficiency
October 23, 2026 at 12:19 PM
jhumimmunity.org
Hematopoietic cell transplantation using treosulfan-based conditioning for IL-10 receptor deficiency. New report by Madhavi Lakkaraja @fredhutch.org, Erica G. Schmitt @washumedicine.bsky.social et al.:
rupress.org/jhi/article/...

@macattacklab.bsky.social
#cytokines #InbornErrorsOfImmunity #HSCT
October 22, 2026 at 1:45 PM
jhumimmunity.org
Open-label extension study of #leniolisib in activated PI3Kδ syndrome: Long-term efficacy and safety. New study from V. Koneti Rao, Gulbu Uzel @charlesuni.cuni.cz and colleagues:
rupress.org/jhi/article/...

#InbornErrorsOfImmunity
October 21, 2026 at 1:45 PM
jhumimmunity.org
McTaggart, Lim, Amarnath, Carpenter, Laurence et al. report on a #CTLA4 homozygous variant identified in a 16-year-old male. CTLA4 expression was severely diminished in CD4+ T cells and T regulatory cells. rupress.org/jhi/article/...

#homozygous #PID #checkpoints #Tregs #InbornErrorsOfImmunity
October 21, 2026 at 4:45 PM
jhumimmunity.org
Idiiatullina, @casanovalab.bsky.social, and @shenyingzhang1.bsky.social review how, in humans, #UNC93B1 maintains a delicate balance between host defense and tolerance to self. rupress.org/jhi/article/...

#InbornErrorsOfImmunity #Autoimmunity
October 20, 2026 at 6:00 PM
jhumimmunity.org
The Jeffrey Modell Foundation’s “Jeffrey’s Insights” next-generation sequencing (NGS) program demonstrates that, for trained clinical immunologists, NGS yields significant diagnostic and clinical value, improving patient care and outcomes. rupress.org/jhi/article/...

#InbornErrorsOfImmunity
October 20, 2026 at 5:30 PM
jhumimmunity.org
Ali, Alazami, and Al-Mousa describe a novel case of human BCL10 deficiency with a 13-year follow-up after hematopoietic stem cell transplantation. Their findings expand the clinical and genetic spectrum of this ultra-rare immunodeficiency rupress.org/jhi/article/...

#InbornErrorsOfImmunity #HSCT
October 20, 2026 at 5:00 PM
jhumimmunity.org
Andrés Soffia, Arturo Borzutzky, and Cristián Sotomayor show that pretransplant immune dysregulation, quantified using IDDA v2.1, predicts overall survival after #HSCT in children with #InbornErrorsOfImmunity. rupress.org/jhi/article/...
October 19, 2026 at 5:01 PM
rupress.org
In @jhumimmunity.org, Andrés Soffia, Arturo Borzutzky, and Cristián Sotomayor show that pretransplant immune dysregulation, quantified using IDDA v2.1, predicts overall survival after #HSCT in children with #InbornErrorsOfImmunity. rupress.org/jhi/article/...
October 19, 2026 at 6:00 PM
artemkalinichenko.bsky.social
ESID 2026! This meeting is so special not only because of the amazing science, but also because of the people that make it so special!

Looking forward to the next one aready!
#ESID2026 #Immunology #InbornErrorsofImmunity #MedicalUniversityofGraz
October 18, 2026 at 2:15 PM
jhumimmunity.org
IRF4 p.T95R combined #immunodeficiency: Clinical features and transplant outcomes. New study from Mattison P. Stojcic, Stuart E. Turvey (@turveylab.bsky.social, BC Children's Hospital, Vancouver) and colleagues:
rupress.org/jhi/article/...

#InbornErrorsOfImmunity #ClinicalPhenotypes #HSCT
October 16, 2026 at 7:30 PM
jhumimmunity.org
JAK-inhibitor treatment induces rapid yet incomplete immune reconstitution in #STAT1 gain-of-function. New study from Cecilia Iglesias-Herrero, Rik Schrijvers (KU Leuven) and colleagues:
rupress.org/jhi/article/...

#InbornErrorsOfImmunity
October 16, 2026 at 3:15 PM