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¡Gran oportunidad de actualización académica e investigación!
🔴 XXVIII Congreso Tópicos Selectos de Infectología 2026. 3 días de aprendizaje y reflexión sobre los grandes desafíos de las enfermedades infecciosas extension.medicinaudea.co/ev…
@microudea @Medicina_UdeA
ANDRES A. ARIAS retweeted
🥇 Primer puesto en Trabajos de investigación, modalidad póster, con: “Clinical, immunological, and genetic characterization of otherwise healthy Latin American patients with Conidiobolomicosis.”
Management change following NGS diagnosis of inborn errors of immunity: The Australasian experience rupress.org/jhi/article/2/6/… 👍👏👏👏
Management change following NGS diagnosis of inborn errors of immunity: The Australasian experience rupress.org/jhi/article/2/6/…
ANDRES A. ARIAS retweeted
💙 Today is APDS Awareness Day 💙
Activated PI3K Delta Syndrome (#APDS) is a rare Primary Immunodeficiency caused by changes in the PIK3CD or PIK3R1 genes. It affects roughly 1 to 2 people per million, and because its symptoms can look like more common conditions, many families spend years searching for answers.
People living with APDS may experience recurrent infections, swollen lymph nodes, an enlarged spleen, chronic inflammation, and autoimmune symptoms.
The median time to an APDS diagnosis is 7 years. Seven years of appointments, of infections, of not knowing why.
APDS can be confirmed through genetic testing, and because it can be inherited, testing may also be recommended for at-risk family members.
Earlier diagnosis means earlier care. That's why awareness matters. 💙
#APDSAwarenessDay #APDS #PrimaryImmunodeficiency #RareDisease #EarlyDiagnosis #GeneticTesting #PIAwareness
ANDRES A. ARIAS retweeted
Current Affairs: Tissue flow creates mechanical cues to coordinate immune-cell migration during development
📹 Hoang Anh Le et al @mayor_lab UCL, London in @NatureCellBio
➡️ bpod.org.uk/archive/2026/9/3… with @AntDLewis
ANDRES A. ARIAS retweeted
The first study of STAT1 GOF in Africa:
STAT1 gain-of-function in 12 Moroccan patients: Clinical and genetic insights rupress.org/jhi/article/2/5/…
ANDRES A. ARIAS retweeted
APDS is a rare inborn error of immunity classified as a group of combined #immunodeficiency; however, because specific treatments for APDS are available, early diagnosis and therapeutic intervention are crucial for improving patient prognosis. (1/2) hubs.la/Q04qSZs10
ANDRES A. ARIAS retweeted
3/ The mutant IL23R proteins display lower levels of cell surface expression for some of these IL-23R variants (R381Q and G300V) and/or conformational changes affecting the efficacy of the agonist with respect to STAT3 phosphorylation (L372F, G149R, R381Q and G300V).
ANDRES A. ARIAS retweeted
2/ Of all the IL23Rvariants present in homozygosity in our own and public databases, we found that 4 were hypomorphic: 3 rare (G300V, G149R, and L372F) and one common (R381Q).
ANDRES A. ARIAS retweeted
1/ We are delighted to share our work published in @JExpMed identifying homozygous rare and common IL23Rhypomorphic variants underlying tuberculosis
(doi.org/10.1084/jem.20252236).
Humans homozygous for rare or common hypomorphic IL23R variants are prone to tuberculosis rupress.org/jem/article/223/…
I’m honored to have contributed to this important study led by @casanova_lab and @BoissonDupuis , now published in the Journal of Experimental Medicine. It has been a privilege to collaborate with such an outstanding international team.
Congratulations to all the authors!
🔗
ANDRES A. ARIAS retweeted
4 rare or common hypomorphic IL23R variants that, when homozygous, impair IFN-γ production by innate-like T and NK cells, thereby conferring a predisposition to tuberculosis @JExpMed
rupress.org/jem/article/223/… @casanova_lab @BoissonDupuis @BustamanteJaci1 @anne_puel
ANDRES A. ARIAS retweeted
THIS IS THE BEST PAPER OF 2026 SO FAR, A MONUMENTAL BREAKTHROUGH, A REVOLUTION IN THE FIELD OF INFLAMMATORY CONDITIONS:
Interleukin-10 Autoantibodies and HLA-DRB1*01:03 in Inflammatory Bowel Disease | New England Journal of Medicine nejm.org/doi/10.1056/NEJMoa2…
ANDRES A. ARIAS retweeted
The benefit of newborn screening:
Newborn screening reduces survival disparities in SCID after stem cell transplant: A PIDTC report rupress.org/jhi/article/2/5/…
















