#inbornerrorsofimmunity search results

And reporting negative and unexpected results is just as essential as sharing success stories - it’s how our field continues to evolve. #inbornerrorsofimmunity #RareDisease

Retrospective study from Gilbert, Ong, Farmer et al. highlights that acute use of nirmatrelvir/ritonavir significantly reduces the risk of post-acute sequelae of #SARSCoV2 infection (#longCOVID) in immunodeficient patients hubs.la/Q03RC6790 #InbornErrorsOfImmunity #COVID19

New review: Nicolai van Oers and Kathleen Sullivan summarize 22q11.2 deletion syndrome, which has complex clinical presentations, with congenital malformations of the thymus leading to many immune system changes. hubs.la/Q03QYpT50 @ClinImmSoc #InbornErrorsOfImmunity

Tiago Santos de Oliveira, Antonio Condino-Neto et al. describe #CGD #epidemiology in Latin America, highlighting high infection risks, limited treatment options, & poor survival rates, especially for males with XL-CGD. hubs.la/Q03Mj5wy0 #InbornErrorsOfImmunity @LASIDimmuno

Everything you wanted to know about cartilage-hair hypoplasia: Svetlana Vakkilainen reviews 60 years of CHH research, covering genetics, pathogenesis, clinical & laboratory features, as well as diagnostic/management considerations hubs.la/Q03LJtGv0 #InbornErrorsOfImmunity

New review from Eken, @hsiehelena 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 hubs.la/Q03HRll30

Insights: @bogunoviclab discusses new study from @IsabelleMeyts group (hubs.la/Q03FRQGh0) that challenges established genetic principles believed to govern DADA2, an inborn error of immunity. hubs.la/Q03FRQfN0 #Autoimmunity #InbornErrorsOfImmunity #Immunodeficiency

Jeremy Brozyna et al. @uabpeds report describe a compound heterozygous leukocyte adhesion deficiency type-1 patient with severe disease, despite exhibiting a moderate integrin expression profile. hubs.la/Q03F1dwf0 #InbornErrorsOfImmunity #ImmunologicalPhenotypes

Dusan Bogunovic @BogunovicLab reviews how incomplete penetrance in genetic disorders can be influenced by genetic variant quality, genetic and epigenetic modification, environment, and mosaicism. hubs.la/Q03D9j_g0 #InbornErrorsOfImmunity

Ian Lamborn, Helen Su et al. @NIAIDNews review MAGIS clinical features, current genetic and biochemical understanding, and future therapeutic considerations. hubs.ly/Q03CMdcG0 #ClinicalPhenotypes #InbornErrorsOfImmunity #Diagnostics

Marat Kribis, Carrie Lucas et al. @YaleIBIO report a patient with recurrent respiratory infections and bronchiectasis due to an atypical splice-site PIK3R1 variant causing APDS2. Functional studies confirmed PI3Kδ hyperactivation. hubs.la/Q03CyYg30 #InbornErrorsOfImmunity

ASXL1 deficiency causes epigenetic dysfunction, combined #immunodeficiency, and EBV-associated lymphoma, say Maggie Fu, Mehul Sharma, Michael Kobor, Stuart Turvey, Catherine Biggs et al. hubs.la/Q03zN1k20 #InbornErrorsOfImmunity

Staines-Boone, Blancas-Galicia, and colleagues characterize a new genetic predisposition to coccidiodomycosis. Autosomal dominant STAT1 deficiency is a monogenic defect that increases susceptibility to coccidioidomycosis in humans. hubs.la/Q03zlsqz0 #InbornErrorsOfImmunity

Aurélia Alimi, Paul Bastard et al. report the case of a patient with complete TYK2 deficiency and virally induced hypereosinophilia and respiratory failure who responded to IL-5 blockade. hubs.la/Q03zlx5r0 #InbornErrorsOfImmunity

How to know if your talk was well understood? The feedback from the audience 🙌 ❤️ #inbornerrorsofimmunity #primaryimmunodeficiency

Tobin and Cooper 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. hubs.la/Q03yv0n00

New review from Yamashita and Morio @sciencetokyo_en: Germline variants in IKZF family proteins cause #InbornErrorsOfImmunity characterized by variable degrees of #immunodeficiency, immune dysregulation, and occasional malignancies. hubs.la/Q03xRZg00

Alioua, Rosain @JRosain @hopital_necker and colleagues describe seven intronic pathogenic variants underlying inborn errors of immunity. hubs.la/Q03xKk7M0 #InbornErrorsOfImmunity

Imanaka, Asano, Okada et al. @HiroshimaUnivEn report the first case of Down syndrome complicated by severe combined immunodeficiency successfully treated with hematopoietic stem cell transplantation. hubs.la/Q03x3ZQh0 #Diagnostics #Therapeutics #InbornErrorsOfImmunity

@jhumimmunity's July issue is here! hubs.la/Q03vJ9Qp0 The cover image shows MHC class I–mediated antigen processing and presentation. From Gadolae et al. (hubs.la/Q03vJcff0) reviewing #InbornErrorsOfImmunity affecting the MHC class I pathway for antigen presentation.

Everything you wanted to know about cartilage-hair hypoplasia: Svetlana Vakkilainen reviews 60 years of CHH research, covering genetics, pathogenesis, clinical & laboratory features, as well as diagnostic/management considerations hubs.la/Q03LJtGv0 #InbornErrorsOfImmunity

New review from Eken, @hsiehelena 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 hubs.la/Q03HRll30

Dusan Bogunovic @BogunovicLab reviews how incomplete penetrance in genetic disorders can be influenced by genetic variant quality, genetic and epigenetic modification, environment, and mosaicism. hubs.la/Q03D9j_g0 #InbornErrorsOfImmunity

New review from Yamashita and Morio @sciencetokyo_en: Germline variants in IKZF family proteins cause #InbornErrorsOfImmunity characterized by variable degrees of #immunodeficiency, immune dysregulation, and occasional malignancies. hubs.la/Q03xRZg00

Healthcare resources for #InbornErrorsOfImmunity in the Asia-Pacific region. A new questionnaire-based study by Motoi Yamashita, Hirokazu Kanegane and colleagues: hubs.la/Q03mrPK40 @APSID_PID

Alioua, Rosain @JRosain @hopital_necker and colleagues describe seven intronic pathogenic variants underlying inborn errors of immunity. hubs.la/Q03xKk7M0 #InbornErrorsOfImmunity

Tiago Santos de Oliveira, Antonio Condino-Neto et al. describe #CGD #epidemiology in Latin America, highlighting high infection risks, limited treatment options, & poor survival rates, especially for males with XL-CGD. hubs.la/Q03Mj5wy0 #InbornErrorsOfImmunity @LASIDimmuno

Aurélia Alimi, Paul Bastard et al. report the case of a patient with complete TYK2 deficiency and virally induced hypereosinophilia and respiratory failure who responded to IL-5 blockade. hubs.la/Q03zlx5r0 #InbornErrorsOfImmunity

Rare #InbornErrorsOfImmunity affecting MHC class I expression can cause chronic infections & be mistaken for #autoimmune disease. New research highlights the need for infection-focused care & long-term follow-up. Review by Gadola, Ljunggren et al.: hubs.la/Q03rHl7q0

#BriefReview from @MACattackLab @WUSTLmed: “Deficiencies and Dysregulation of #STATPathways That Drive #InbornErrorsofImmunity: Lessons from Patients and Mouse Models of Disease” #ReadTheJI #immunology 👉 ow.ly/jiHE50Ogmju

Tobin and Cooper 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. hubs.la/Q03yv0n00

Imanaka, Asano, Okada et al. @HiroshimaUnivEn report the first case of Down syndrome complicated by severe combined immunodeficiency successfully treated with hematopoietic stem cell transplantation. hubs.la/Q03x3ZQh0 #Diagnostics #Therapeutics #InbornErrorsOfImmunity

Marat Kribis, Carrie Lucas et al. @YaleIBIO report a patient with recurrent respiratory infections and bronchiectasis due to an atypical splice-site PIK3R1 variant causing APDS2. Functional studies confirmed PI3Kδ hyperactivation. hubs.la/Q03CyYg30 #InbornErrorsOfImmunity

Join us for the 16th Annual Conference & Workshops of #TheCytometrySociety of India, October 17-20, 2024. Featuring international keynote speakers, it includes an ICMR-NIIH workshop on #InbornErrorsofImmunity (Oct 17-18). Don't miss this chance to learn and #network. #IEI #TCS24

New review: Nicolai van Oers and Kathleen Sullivan summarize 22q11.2 deletion syndrome, which has complex clinical presentations, with congenital malformations of the thymus leading to many immune system changes. hubs.la/Q03QYpT50 @ClinImmSoc #InbornErrorsOfImmunity

Successful coil occlusion of intracranial aneurysm in a child with STAT3 hyper IgE syndrome. New study from Archan Sil, Pandiarajan Vignesh and colleagues (PGIMER, Chandigarh, India): hubs.la/Q03qGvKC0 #InbornErrorsOfImmunity

Staines-Boone, Blancas-Galicia, and colleagues characterize a new genetic predisposition to coccidiodomycosis. Autosomal dominant STAT1 deficiency is a monogenic defect that increases susceptibility to coccidioidomycosis in humans. hubs.la/Q03zlsqz0 #InbornErrorsOfImmunity

JHI’s July issue is here! hubs.la/Q03vJfCB0 The cover shows MHC class I–mediated antigen processing and presentation. From a review by Gadola, Ljunggren et al. (hubs.la/Q03vJbC20) on #InbornErrorsOfImmunity affecting the MHC class I pathway for antigen presentation.

Ian Lamborn, Helen Su et al. @NIAIDNews review MAGIS clinical features, current genetic and biochemical understanding, and future therapeutic considerations. hubs.ly/Q03CMdcG0 #ClinicalPhenotypes #InbornErrorsOfImmunity #Diagnostics

@jhumimmunity's July issue is here! hubs.la/Q03vJ9Qp0 The cover image shows MHC class I–mediated antigen processing and presentation. From Gadolae et al. (hubs.la/Q03vJcff0) reviewing #InbornErrorsOfImmunity affecting the MHC class I pathway for antigen presentation.