Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2

Non-canonical NF-κB-pathway signaling is integral in immunoregulation. Heterozygous mutations in NFKB2 have recently been established as a molecular cause of common variable immunodeficiency (CVID) and DAVID-syndrome, a rare condition combining deficiency of anterior pituitary hormone with CVID. Her...

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Detalles Bibliográficos
Autores principales: Klemann, Christian, Camacho-Ordonez, Nadezhda, Yang, Linlin, Eskandarian, Zoya, Rojas-Restrepo, Jessica L., Frede, Natalie, Bulashevska, Alla, Heeg, Maximilian, Al-Ddafari, Moudjahed Saleh, Premm, Julian, Seidl, Maximilian, Ammann, Sandra, Sherkat, Roya, Radhakrishnan, Nita, Warnatz, Klaus, Unger, Susanne, Kobbe, Robin, Hüfner, Anja, Leahy, T. Ronan, Ip, Winnie, Burns, Siobhan O., Fliegauf, Manfred, Grimbacher, Bodo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6435015/
https://www.ncbi.nlm.nih.gov/pubmed/30941118
http://dx.doi.org/10.3389/fimmu.2019.00297

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