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Progressive Immunodeficiency with Gradual Depletion of B and CD4⁺ T Cells in Immunodeficiency, Centromeric Instability and Facial Anomalies Syndrome 2 (ICF2).
Sogkas G, Dubrowinskaja N, Bergmann AK, Lentes J, Ripperger T, Fedchenko M, Ernst D, Jablonka A, Geffers R, Baumann U, Schmidt RE, Atschekzei F. Sogkas G, et al. Among authors: schmidt re. Diseases. 2019 Apr 4;7(2):34. doi: 10.3390/diseases7020034. Diseases. 2019. PMID: 30987377 Free PMC article.
A novel NFKBIA variant substituting serine 36 of IκBα causes immunodeficiency with warts, bronchiectasis and juvenile rheumatoid arthritis in the absence of ectodermal dysplasia.
Sogkas G, Adriawan IR, Ringshausen FC, Baumann U, Schröder C, Klemann C, von Hardenberg S, Schmidt G, Bernd A, Jablonka A, Ernst D, Schmidt RE, Atschekzei F. Sogkas G, et al. Among authors: schmidt re, schmidt g. Clin Immunol. 2020 Jan;210:108269. doi: 10.1016/j.clim.2019.108269. Epub 2019 Nov 1. Clin Immunol. 2020. PMID: 31683054
Late-Onset Antibody Deficiency Due to Monoallelic Alterations in NFKB1.
Schröder C, Sogkas G, Fliegauf M, Dörk T, Liu D, Hanitsch LG, Steiner S, Scheibenbogen C, Jacobs R, Grimbacher B, Schmidt RE, Atschekzei F. Schröder C, et al. Among authors: schmidt re. Front Immunol. 2019 Nov 14;10:2618. doi: 10.3389/fimmu.2019.02618. eCollection 2019. Front Immunol. 2019. PMID: 31803180 Free PMC article.
867 results