Associated Papers
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
IKBKB gain of function: An inborn error with clinical heterogeneity progressing toward combined immunodeficiency.
Körholz J et al.
The Journal of Allergy and Clinical Immunology, 2025
Case Report: A novel IKBKB variant (c.1705G>T) is associated with immune dysregulation and disseminated tuberculosis.
Arce-Estrada GE et al.
Frontiers in Immunology, 2025
Distinctive genomic features of human T-lymphotropic virus type 1-related adult T-cell leukemia-lymphoma in Western populations.
Myers CS et al.
Haematologica, 2024
Large B-cell lymphomas with CCND1 rearrangement have different immunoglobulin gene breakpoints and genomic profile than mantle cell lymphoma.
Özoğul E et al.
Blood Cancer Journal, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
Fatal Disseminated Hepatitis E in an Adult Patient with IKBKB GOF Mutation.
Hanitsch LG et al.
Journal of Clinical Immunology, 2024
IKK2 controls the inflammatory potential of tissue-resident regulatory T cells in a murine gain of function model.
Cardinez C et al.
Nature Communications, 2024
A Heterozygous Gain-of-Function Variant in IKBKB Associated with Autoimmunity and Autoinflammation.
Sacco K et al.
Journal of Clinical Immunology, 2023
Circulating tumor DNA mutation profile is associated with the prognosis and treatment response of Chinese patients with newly diagnosed diffuse large B-cell lymphoma.
Guan T et al.
Frontiers in Oncology, 2022
In-depth cell-free DNA sequencing reveals genomic landscape of Hodgkin's lymphoma and facilitates ultrasensitive residual disease detection.
Sobesky S et al.
Med (new York, N.y.), 2021
Heterozygous IKKβ activation loop mutation results in a complex immunodeficiency syndrome.
Abbott J et al.
The Journal of Allergy and Clinical Immunology, 2021
Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers.
Elsink K et al.
Frontiers in Immunology, 2021
Genomic analyses of flow-sorted Hodgkin Reed-Sternberg cells reveal complementary mechanisms of immune evasion.
Wienand K et al.
Blood Advances, 2019
Targeted-Gene Sequencing to Catch Triple Negative Breast Cancer Heterogeneity before and after Neoadjuvant Chemotherapy.
Di Cosimo S et al.
Cancers, 2019
Gain-of-function IKBKB mutation causes human combined immune deficiency.
Cardinez C et al.
The Journal of Experimental Medicine, 2018
Genomic characterization of primary central nervous system lymphoma.
Fukumura K et al.
Acta Neuropathologica, 2016