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Multiple Family Members With Delayed Cord Separtion and Combined Immunodeficiency With Novel Mutation in IKBKB

Background: Inhibitor of kappa kinase 2 (IKK2) deficiency is a recently described combined immunodeficiency. It undermines the nuclear factor-kappa B (NF-κB) activation pathway. Methods: The clinical and immunological data of four patients diagnosed with combined immunodeficiency (CID) from two rela...

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Detalles Bibliográficos
Autores principales: Alsum, Zobaida, AlZahrani, Mofareh S., Al-Mousa, Hamoud, Alkhamis, Nouf, Alsalemi, Abdulkareem A., Shamseldin, Hanan E., Alkuraya, Fowzan S., Alangari, Abdullah A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7034298/
https://www.ncbi.nlm.nih.gov/pubmed/32117824
http://dx.doi.org/10.3389/fped.2020.00009