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A novel CARD11 heterozygous missense variant in a CADINS patient

Background: CARD11-associated atopy with dominant interference of NF-κB signaling (CADINS) is developed as a result of heterozygous loss-of-function variants in CARD11 that function as strong dominant-negative alleles. In lymphocytes, CARD11 encodes a scaffold protein that links activation of the an...

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Главные авторы: Randa S. AlYafie, PhD, Mehdi Adeli, MD, Dinesh Velayutham, PhD, Salim Bougarn, PhD, Manar Ata, MSc, Fatima Al-Ali, MRes, Evonne Chin-Smith, PhD, Bradly M. Bauman, PhD, Andrew L. Snow, PhD, Bertrand Boisson, PhD, Nico Marr, PhD, Nicholas van Panhuys, PhD, Andrea Guennoun, PhD, Puthen Veettil Jithesh, PhD
Формат: Artigo
Язык:Inglês
Опубликовано: Elsevier 2025-05-01
Серии:Journal of Allergy and Clinical Immunology: Global
Предметы:
CARD11
CADINS
eczema
asthma
food allergies
loss-of-function variant
Online-ссылка:http://www.sciencedirect.com/science/article/pii/S2772829325000621
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