Top Tweets for #InbornErrorsofImmunity
@jhumimmunity 9) Overall mortality remained high, particularly among patients with XL-CGD
Our study highlights the urgent need for:
Earlier diagnosis
Expanded access to DHR and genetic testing
Timely referral for HSCT
Increased awareness of #InbornErrorsOfImmunity in Latin America @LASIDimmuno
@jhumimmunity 2) This work was developed through collaboration between Colombia medical doctors and scientifics, Rockefeller University and INSERM Paris with the support of Jacinta Bustamante @BustamanteJaci1. #InbornErrorsOfImmunity #CGD #IEI #PrimaryImmunodeficiency #Immunology
Christine Karanja-Chege et al. @GertrudesHosp describe a rare case of gastrointestinal #tuberculosis in a severely immunosuppressed three-month-old infant presenting with intestinal obstruction in Kenya. https://t.co/TvpRUyXcTH
#InbornErrorsofImmunity #IEIs
Using clinical vignettes, Melissa Gans et al. highlight the underlying mechanisms and potential treatments for immune dysregulation in #DownSyndrome. https://t.co/hoGVwljkYv
#HowITreat #Autoimmunity #InbornErrorsOfImmunity
@bogunoviclab
Lauren M. Gunderman, Eric J. Allenspach et al. share the second report of X-linked SEPTIN6-related disease in two brothers identified by #SCID newborn screening. https://t.co/SReYajdYAM
#Septins #IEI #InbornErrorsofImmunity #ClinicalPhenotypes #Bcells
Hennings, Ekwall et al. integrated spatial transcriptomic and proteomic analyses of #thymus tissue from patients with 22q11.2 deletion syndrome to identify fibroblast-driven collagen expansion and alterations in medullary niches. https://t.co/GckJ2eOANP
#InbornErrorsOfImmunity
New study from Bhattad, Singh, et al. analyzes the records of five Activated phosphoinositide 3-kinase ฮด syndrome 1 (APDS1) patients, representing the first case series of APDS1 from the Indian subcontinent. https://t.co/kvMOWCzYdC
#InbornErrorsOfImmunity
How I treat: Jennifer W. Leiding, Michael D. Keller and colleagues present their practical guide to diagnosis and treatment of chronic granulomatous disease, including the first comprehensive clinical protocol for treatment of CGD. https://t.co/1cJMFFcReV
#InbornErrorsOfImmunity
ATTENTION ๐จ- Primary Immunodeficiency
Week is approaching. If you are a LASID member, we invite you to send us a video telling us where you are from and sharing something interesting about how these diseases are managed in your country. #lasid #immunity #inbornerrorsofimmunity
Perspective: Garcia-Solis, Pรฉrez de Diego, and Sรกnchez-Ramรณn @SaludMadrid examine genetic testing advances in #InbornErrorsOfImmunity, highlighting challenges in variant interpretation and the need for standardized approaches. https://t.co/7U5qZJWC9M
@ESIDsociety
The strongest predictors for #InbornErrorsOfImmunity in children with persistently low IgE were #lymphocyte, #platelet, and #neutrophil counts.
https://t.co/wyhd3f1sl3
Andersen, Assing, Mogensen et al. @AarhusUni describe a patient with #asthma, pulmonary #aspergillosis, and elevated IgE homozygous for a deleterious variant in the oncostatin M receptor. https://t.co/kzMOsuM5Zi
#InbornErrorsOfImmunity #immunodeficiencies #InfectiousDiseases
Lyytikรคinen, Johansson et al. report two novel assays to characterize T cell function in two patients with DCLRE1C variants diagnosed with leaky severe combined immunodeficiencies. https://t.co/oZwMX6Vi9p
#SCID #PrimaryImmunodeficiency #InbornErrorsOfImmunity #HSCT
Adolescents with #InbornErrorsOfImmunity face school hurdles. Lopez-Seguer, Riviere, Soler-Palacin et al. @vallhebron call for co-developed, teacher-facing protocols with authorities and patient groups. https://t.co/41TtKclsFf
#IEI #RareDisease #Peds #Education
@ESIDsociety
Explore ๐๐ฆ๐ด๐ต ๐ฐ๐ง ๐๐๐ papers in basic #immunology, #immunotherapy & #TumorImmunology, #InbornErrorsOfImmunity, #neurodegeneration, & #inflammation ๐ https://t.co/oAGQUzdP4t
THANK YOU to our authors, reviewers, and readers for your interest and continued support for JEM!
Among 134 Indian children with โฅ2 JMF @Info4PI warning signs, 25.4% had a confirmed IEI.
Median age of IEI onset: 9 months
#InbornErrorsofImmunity
2๏ธโฃ Yamashita et al. present a questionnaire-based study that provides insights into the current healthcare infrastructure used to diagnose & manage #InbornErrorsOfImmunity across countries and regions involved in @APSID_PID ๐ https://t.co/wW2uh5aZgv
@casanova_lab @HsiehElena @BogunovicLab 5๏ธโฃ #InbornErrorsOfImmunity affecting the MHC class I pathway for antigen presentation. A review from Stephan Gadola, Hans-Gustaf Ljunggren and colleagues ๐ https://t.co/WKsUlddjyf
@casanova_lab 3๏ธโฃ This review from Eken, @HsiehElena et al. unmasks the significant, yet understudied, role of innate lymphoid cells in #InbornErrorsOfImmunity. The authors examine how these โbehind the scenesโ immune components contribute to monogenetic immune disorders https://t.co/Qv95YEkiwR
1๏ธโฃ The inaugural editorial by Jean-Laurent Casanova @casanova_lab outlines #JHIโs vision as the destination for groundbreaking research in human immunity and #InbornErrorsOfImmunity ๐ https://t.co/Fq3c0JJWre
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