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Page 1
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
Matuozzo D, Talouarn E, Marchal A, Zhang P, Manry J, Seeleuthner Y, Zhang Y, Bolze A, Chaldebas M, Milisavljevic B, Gervais A, Bastard P, Asano T, Bizien L, Barzaghi F, Abolhassani H, Abou Tayoun A, Aiuti A, Alavi Darazam I, Allende LM, Alonso-Arias R, Arias AA, Aytekin G, Bergman P, Bondesan S, Bryceson YT, Bustos IG, Cabrera-Marante O, Carcel S, Carrera P, Casari G, Chaïbi K, Colobran R, Condino-Neto A, Covill LE, Delmonte OM, El Zein L, Flores C, Gregersen PK, Gut M, Haerynck F, Halwani R, Hancerli S, Hammarström L, Hatipoğlu N, Karbuz A, Keles S, Kyheng C, Leon-Lopez R, Franco JL, Mansouri D, Martinez-Picado J, Metin Akcan O, Migeotte I, Morange PE, Morelle G, Martin-Nalda A, Novelli G, Novelli A, Ozcelik T, Palabiyik F, Pan-Hammarström Q, de Diego RP, Planas-Serra L, Pleguezuelo DE, Prando C, Pujol A, Reyes LF, Rivière JG, Rodriguez-Gallego C, Rojas J, Rovere-Querini P, Schlüter A, Shahrooei M, Sobh A, Soler-Palacin P, Tandjaoui-Lambiotte Y, Tipu I, Tresoldi C, Troya J, van de Beek D, Zatz M, Zawadzki P, Al-Muhsen SZ, Alosaimi MF, Alsohime FM, Baris-Feldman H, Butte MJ, Constantinescu SN, Cooper MA, Dalgard CL, Fellay J, Heath JR, Lau YL, Lifton RP, Maniatis T, Mogensen TH, <… See abstract for full author list ➔ Matuozzo D, et al. Among authors: von bernuth h. Genome Med. 2023 Apr 5;15(1):22. doi: 10.1186/s13073-023-01173-8. Genome Med. 2023. PMID: 37020259 Free PMC article.
Upfront Enzyme Replacement via Erythrocyte Transfusions for PNP Deficiency.
Eichinger A, von Bernuth H, Dedieu C, Schroeder SA, la Marca G, Albert MH, Hauck F. Eichinger A, et al. Among authors: von bernuth h. J Clin Immunol. 2021 Jul;41(5):1112-1115. doi: 10.1007/s10875-021-01003-9. Epub 2021 Feb 27. J Clin Immunol. 2021. PMID: 33641045 Free PMC article. No abstract available.
X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis.
Speckmann C, Lehmberg K, Albert MH, Damgaard RB, Fritsch M, Gyrd-Hansen M, Rensing-Ehl A, Vraetz T, Grimbacher B, Salzer U, Fuchs I, Ufheil H, Belohradsky BH, Hassan A, Cale CM, Elawad M, Strahm B, Schibli S, Lauten M, Kohl M, Meerpohl JJ, Rodeck B, Kolb R, Eberl W, Soerensen J, von Bernuth H, Lorenz M, Schwarz K, Zur Stadt U, Ehl S. Speckmann C, et al. Among authors: von bernuth h. Clin Immunol. 2013 Oct;149(1):133-41. doi: 10.1016/j.clim.2013.07.004. Epub 2013 Jul 31. Clin Immunol. 2013. PMID: 23973892
CD70 Deficiency Associated With Chronic Epstein-Barr Virus Infection, Recurrent Airway Infections and Severe Gingivitis in a 24-Year-Old Woman.
Krüger R, Martin E, Dmytrus J, Feiterna-Sperling C, Meisel C, Unterwalder N, Kölsch U, Wahn V, Hofmann J, Korn P, Latour S, Boztug K, von Bernuth H. Krüger R, et al. Among authors: von bernuth h. Front Immunol. 2020 Aug 4;11:1593. doi: 10.3389/fimmu.2020.01593. eCollection 2020. Front Immunol. 2020. PMID: 32849540 Free PMC article.
Case Report: Rubella Virus-Induced Cutaneous Granulomas in Two Pediatric Patients With DNA Double Strand Breakage Repair Disorders - Outcome After Hematopoietic Stem Cell Transplantation.
Baumann U, Schulte JH, Groß JP, Beier R, Ludwig M, Wahn V, Hofmann J, Maecker-Kolhoff B, Sauer M, Kaiser-Labusch P, Karimian N, Blume-Peytavi U, Ghoreschi F, Ott H, Perelygina L, Klemann C, Blankenstein O, von Bernuth H, Krüger R. Baumann U, et al. Among authors: von bernuth h. Front Immunol. 2022 Jun 2;13:886540. doi: 10.3389/fimmu.2022.886540. eCollection 2022. Front Immunol. 2022. PMID: 35720367 Free PMC article.
Septic arthritis or juvenile idiopathic arthritis--the case of a 2 year old boy.
Kallinich T, Kölsch U, Lieber M, Unterwalder N, Spors B, Lorenz M, Schwarz K, Meisel C, von Bernuth H. Kallinich T, et al. Among authors: von bernuth h. Pediatr Allergy Immunol. 2015 Jun;26(4):389-91. doi: 10.1111/pai.12373. Epub 2015 Apr 24. Pediatr Allergy Immunol. 2015. PMID: 25865658 No abstract available.
[Interdisciplinary AWMF guideline for the diagnostics of primary immunodeficiency].
Farmand S, Baumann U, von Bernuth H, Borte M, Foerster-Waldl E, Franke K, Habermehl P, Kapaun P, Klock G, Liese J, Marks R, Müller R, Nebe T, Niehues T, Schuster V, Warnatz K, Witte T, Ehl S, Schulze I; Association of the Scientific Medical Societies in Germany (AWMF). Farmand S, et al. Among authors: von bernuth h. Klin Padiatr. 2011 Nov;223(6):378-85. doi: 10.1055/s-0031-1287835. Epub 2011 Nov 3. Klin Padiatr. 2011. PMID: 22052638 German.
154 results