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Horst von Bernuth

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Articles 122
Citations 4395
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Recent Articles
21.
Maccari M, Wolkewitz M, Schwab C, Lorenzini T, Leiding J, Aladjdi N, et al.
J Allergy Clin Immunol . 2023 Jun; 152(4):984-996.e10. PMID: 37390899
Background: Activated phosphoinositide-3-kinase δ syndrome (APDS) is an inborn error of immunity (IEI) with infection susceptibility and immune dysregulation, clinically overlapping with other conditions. Management depends on disease evolution, but...
22.
Staudacher O, Klein J, Thee S, Ullrich J, Wahn V, Unterwalder N, et al.
J Allergy Clin Immunol Pract . 2023 Jun; 11(9):2872-2883. PMID: 37302792
Background: Assessment of T-cell receptor excision circles (TRECs) in dried blood spots of newborns allows the detection of severe combined immunodeficiency (SCID) (T cells <300/μL at birth) with a presumed...
23.
Staus P, Rusch S, El-Helou S, Muller G, Krausz M, Geisen U, et al.
J Clin Immunol . 2023 Apr; 43(6):1289-1301. PMID: 37084016
Patient registries are a very important and essential tool for investigating rare diseases, as most physicians only see a limited number of cases during their career. Diseases of multi-organ autoimmunity...
24.
Matuozzo D, Talouarn E, Marchal A, Zhang P, Manry J, Seeleuthner Y, et al.
Genome Med . 2023 Apr; 15(1):22. PMID: 37020259
Background: We previously reported that impaired type I IFN activity, due to inborn errors of TLR3- and TLR7-dependent type I interferon (IFN) immunity or to autoantibodies against type I IFN,...
25.
Scheiermann J, Kunkele A, von Stackelberg A, Eggert A, Lang P, Zirngibl F, et al.
Front Immunol . 2023 Mar; 14:1042650. PMID: 36875143
Chronic granulomatous disease is an inborn error of immunity due to disrupted function of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. This results in impaired respiratory burst of phagocytes...
26.
Coordes A, Grund D, Mainka A, Olze H, Hanitsch L, von Bernuth H, et al.
HNO . 2022 Dec; 71(2):77-82. PMID: 36477391
Human papillomaviruses (HPV) 6 and 11 cause 90% of recurrent laryngeal papillomatosis (RLP). It is unclear whether recurrences are caused by new infections or the spread of infected cells. Symptomatic...
27.
Krick D, Hauptmann K, Penndorf V, Tacke F, Kruger R, von Bernuth H, et al.
Z Gastroenterol . 2022 Nov; 61(7):827-831. PMID: 36413990
Patients with common variable immunodeficiency (CVID) generally bear a higher risk of non Hodgkin B-cell lymphomas and solid tumors, in particular gastric adenocarcinoma.Here we report a case of a 58-year-old...
28.
Matuozzo D, Talouarn E, Marchal A, Manry J, Seeleuthner Y, Zhang Y, et al.
medRxiv . 2022 Nov; PMID: 36324795
Background: We previously reported inborn errors of TLR3- and TLR7-dependent type I interferon (IFN) immunity in 1-5% of unvaccinated patients with life-threatening COVID-19, and auto-antibodies against type I IFN in...
29.
Gottschalk I, Kolsch U, Wagner D, Kath J, Martini S, Kruger R, et al.
J Clin Immunol . 2022 Nov; 43(2):421-439. PMID: 36319802
Purpose: Besides their developmental and neurological phenotype, most patients with MECP2/IRAK1 duplication syndrome present with recurrent and severe infections, accompanied by strong inflammation. Respiratory infections are the most common cause...
30.
Buhl D, Staudacher O, Santibanez S, Rossi R, Girschick H, Stephan V, et al.
Front Pediatr . 2022 Sep; 10:1005990. PMID: 36160808
[This corrects the article DOI: 10.3389/fped.2022.896086.].