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Novel mutation and expanding phenotype in IRF2BP2 deficiency.
Körholz J, Gabrielyan A, Sczakiel HL, Schulze L, Rejzek M, Laass MW, Leuchten N, Tiebel O, Aust D, Conrad K, Röber N, Jacobsen EM, Ehmke N, Berner R, Lucas N, Lee-Kirsch MA, Wiedemuth R, Roesler J, Roers A, Amendt T, Schuetz C. Körholz J, et al. Among authors: gabrielyan a. Rheumatology (Oxford). 2023 Apr 3;62(4):1699-1705. doi: 10.1093/rheumatology/keac575. Rheumatology (Oxford). 2023. PMID: 36193988
One Gene, Many Facets: Multiple Immune Pathway Dysregulation in SOCS1 Haploinsufficiency.
Körholz J, Gabrielyan A, Sowerby JM, Boschann F, Chen LS, Paul D, Brandt D, Kleymann J, Kolditz M, Toepfner N, Knöfler R, Jacobsen EM, Wolf C, Conrad K, Röber N, Lee-Kirsch MA, Smith KGC, Mundlos S, Berner R, Dalpke AH, Schuetz C, Rae W. Körholz J, et al. Among authors: gabrielyan a. Front Immunol. 2021 Aug 5;12:680334. doi: 10.3389/fimmu.2021.680334. eCollection 2021. Front Immunol. 2021. PMID: 34421895 Free PMC article.
More severe than CVID: Combined immunodeficiency due to a novel NFKB2 mutation.
Bienias M, Gabrielyan A, Geberzahn L, Rösen-Wolff A, Huebner A, Jacobsen EM, Toepfner N, Fang M, Lee-Kirsch MA, Roesler J, Schuetz C. Bienias M, et al. Among authors: gabrielyan a. Pediatr Allergy Immunol. 2021 May;32(4):793-797. doi: 10.1111/pai.13441. Epub 2021 Jan 19. Pediatr Allergy Immunol. 2021. PMID: 33369776 No abstract available.
23 results