Except the unexpected: A TIPIC syndrome in a child with #IPEX. New report from Vincent Fréret, Agathe Escudier and colleagues @hopitalnecker.bsky.social:
rupress.org/jhi/article/...
#ImmunologicalPhenotypes #InbornErrorsOfImmunity #ClinicalPhenotypes #Diagnostics #FOXP3
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
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
Extended clinical phenotypes and long-term outcomes of phosphoglucomutase-3 deficiency. New research letter from Chen Wang, Alexandra Freeman and colleagues @niaidnews.bsky.social: rupress.org/jhi/article/...
#Autoimmunity #Atopy #ClinicalPhenotypes #InbornErrorsOfImmunity
@clinimmsoc.bsky.social
A systematic literature review of CVID reveals pervasive detrimental noninfectious manifestations. New study from Michelle Ducasa, Rebecca Marsh and colleagues: rupress.org/jhi/article/...
#ClinicalPhenotypes #InbornErrorsOfImmunity #Autoimmunity
A heterozygous USB1 variant linked to #immunodeficiency. New study from Alice Valagussa, Sven Kracker and colleagues @institutimagine.bsky.social @inserm.fr: rupress.org/jhi/article/...
#Diagnostics #InbornErrorsOfImmunity #ClinicalPhenotypes
MAGIS syndrome: Phenotypes, pathogenesis, and treatment. New review from Ian Lamborn, Helen Su and colleagues @niaidnews.bsky.social: rupress.org/jhi/article/...
#ClinicalPhenotypes #InbornErrorsOfImmunity #Diagnostics
In @jhumimmunity.org, Ian Lamborn, Helen Su et al. @niaidnews.bsky.social review MAGIS clinical features, current genetic and biochemical understanding, and future therapeutic considerations. rupress.org/jhi/article/...
#ClinicalPhenotypes #InbornErrorsOfImmunity #Diagnostics
Ian Lamborn, Helen Su et al. @niaidnews.bsky.social review MAGIS clinical features, current genetic and biochemical understanding, and future therapeutic considerations. rupress.org/jhi/article/...
#ClinicalPhenotypes #InbornErrorsOfImmunity #Diagnostics
Description of invasive #aspergillosis in Mexican patients with chronic granulomatous disease. New study from Tiareth Cova-Guzmán, Lizbeth Blancas-Galicia and colleagues (National Institute of Pediatrics, Mexico): rupress.org/jhi/article/...
#ClinicalPhenotypes #InbornErrorsOfImmunity #Diagnostics
Mosaic STAT5B gain-of-function associated with demyelinating disease and #autoimmunity. New study from Erica Schmitt, Megan Cooper @macattacklab.bsky.social @washumedicine.bsky.social and colleagues: rupress.org/jhi/article/...
#SomaticSenetics #Therapeutics #ClinicalPhenotypes
#InbornErrorsOfImmunity affecting the MHC class I pathway for antigen presentation. New review from Stephan Gadola, Hans-Gustaf Ljunggren and colleagues @ki.se: rupress.org/jhi/article/...
#ClinicalPhenotypes
