A pathogenic missense variant in NFKB1 causes common variable immunodeficiency due to detrimental protein damage

sonderdruck aus: Frontiers in immunology | 2021

von Fliegauf, M. | Krüger, R. | Steiner, S. | +5

Establishing the molecular diagnoses in a cohort of 291 patients with predominantly antibody deficiency by targeted next-generation sequencing: Experience from a monocentric study

sonderdruck aus: Frontiers in immunology | 2021

von Rojas Restrepo, J. | Caballero Oteyza, A. | Hübscher, K. | +8

Clinical and immunological phenotype of patients with primary immunodeficiency due to damaging mutations in NFKB2

sonderdruck aus: Frontiers in immunology | 2019

von Klemann, C. | Camacho-Ordonez, N. | Yang, L. | +20

Assessing the functional relevance of variants in the IKAROS family zinc finger protein 1 (IKZF1) in a cohort of patients with primary immunodeficiency

sonderdruck aus: Frontiers in immunology | 2019

von Eskandarian, Z. | Fliegauf, M. | Bulashevska, A. | +6

Late-onset antibody deficiency due to monoallelic alterations in NFKB1

sonderdruck aus: Frontiers in immunology | 2019

von Schroeder, C. | Sogkas, G. | Fliegauf, M. | +9