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

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 relat...

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Bibliographic Details
Main Authors: Zobaida Alsum, Mofareh S. AlZahrani, Hamoud Al-Mousa, Nouf Alkhamis, Abdulkareem A. Alsalemi, Hanan E. Shamseldin, Fowzan S. Alkuraya, Abdullah A. Alangari
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-02-01
Series:Frontiers in Pediatrics
Subjects:
inhibitor of kappa kinase beta/inhibitor of kappa kinase 2
IKBKB
combined immunodeficiency
hematopoietic stem cell transplant
delayed separation of the umbilical cord
Online Access:https://www.frontiersin.org/article/10.3389/fped.2020.00009/full

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https://www.frontiersin.org/article/10.3389/fped.2020.00009/full

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