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Page 1
The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1.
Depner M, Fuchs S, Raabe J, Frede N, Glocker C, Doffinger R, Gkrania-Klotsas E, Kumararatne D, Atkinson TP, Schroeder HW Jr, Niehues T, Dückers G, Stray-Pedersen A, Baumann U, Schmidt R, Franco JL, Orrego J, Ben-Shoshan M, McCusker C, Jacob CM, Carneiro-Sampaio M, Devlin LA, Edgar JD, Henderson P, Russell RK, Skytte AB, Seneviratne SL, Wanders J, Stauss H, Meyts I, Moens L, Jesenak M, Kobbe R, Borte S, Borte M, Wright DA, Hagin D, Torgerson TR, Grimbacher B. Depner M, et al. J Clin Immunol. 2016 Jan;36(1):73-84. doi: 10.1007/s10875-015-0214-9. Epub 2015 Nov 25. J Clin Immunol. 2016. PMID: 26604104 Free PMC article.
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Ouachée-Chardin M, Fouyssac F, Girisha KM, Etzioni A, Van Montfrans J, Camcioglu Y, Kerns LA, Belohradsky B, Blanche S, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova JL, Puel A; International STAT1 Gain-of-Function Study Group. Toubiana J, et al. Blood. 2016 Jun 23;127(25):3154-64. doi: 10.1182/blood-2015-11-679902. Epub 2016 Apr 25. Blood. 2016. PMID: 27114460 Free PMC article.
Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations.
Leiding JW, Okada S, Hagin D, Abinun M, Shcherbina A, Balashov DN, Kim VHD, Ovadia A, Guthery SL, Pulsipher M, Lilic D, Devlin LA, Christie S, Depner M, Fuchs S, van Royen-Kerkhof A, Lindemans C, Petrovic A, Sullivan KE, Bunin N, Kilic SS, Arpaci F, Calle-Martin O, Martinez-Martinez L, Aldave JC, Kobayashi M, Ohkawa T, Imai K, Iguchi A, Roifman CM, Gennery AR, Slatter M, Ochs HD, Morio T, Torgerson TR; Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation and the Primary Immune Deficiency Treatment Consortium. Leiding JW, et al. Among authors: depner m. J Allergy Clin Immunol. 2018 Feb;141(2):704-717.e5. doi: 10.1016/j.jaci.2017.03.049. Epub 2017 Jun 7. J Allergy Clin Immunol. 2018. PMID: 28601685 Free PMC article.
An integrated molecular risk score early in life for subsequent childhood asthma risk.
Böck A, Urner K, Eckert JK, Salvermoser M, Laubhahn K, Kunze S, Kumbrink J, Hoeppner MP, Kalkbrenner K, Kreimeier S, Beyer K, Hamelmann E, Kabesch M, Depner M, Hansen G, Riedler J, Roponen M, Schmausser-Hechfellner E, Barnig C, Divaret-Chauveau A, Karvonen AM, Pekkanen J, Frei R, Roduit C, Lauener R, Schaub B; CHAMP study group; PASTURE study group. Böck A, et al. Among authors: depner m. Clin Exp Allergy. 2024 May;54(5):314-328. doi: 10.1111/cea.14475. Epub 2024 Mar 31. Clin Exp Allergy. 2024. PMID: 38556721 Free article.
Trajectories of cough without a cold in early childhood and associations with atopic diseases.
Divaret-Chauveau A, Mauny F, Hose A, Depner M, Dalphin ML, Kaulek V, Barnig C, Schaub B, Schmausser-Hechfellner E, Renz H, Riedler J, Pekkanen J, Karvonen AM, Täubel M, Lauener R, Roduit C, Vuitton DA, von Mutius E, Demoulin-Alexikova S; PASTURE study group. Divaret-Chauveau A, et al. Among authors: depner m. Clin Exp Allergy. 2023 Apr;53(4):429-442. doi: 10.1111/cea.14257. Epub 2022 Dec 1. Clin Exp Allergy. 2023. PMID: 36453463
Continuous Rather Than Solely Early Farm Exposure Protects From Hay Fever Development.
Pechlivanis S, Depner M, Kirjavainen PV, Roduit C, Täubel M, Frei R, Skevaki C, Hose A, Barnig C, Schmausser-Hechfellner E, Ege MJ, Schaub B, Divaret-Chauveau A, Lauener R, Karvonen AM, Pekkanen J, Riedler J, Illi S, von Mutius E; PASTURE Study Group. Pechlivanis S, et al. Among authors: depner m. J Allergy Clin Immunol Pract. 2023 Feb;11(2):591-601. doi: 10.1016/j.jaip.2022.10.035. Epub 2022 Nov 7. J Allergy Clin Immunol Pract. 2023. PMID: 36356926 Free PMC article.
Immune Responsiveness to LPS Determines Risk of Childhood Wheeze and Asthma in 17q21 Risk Allele Carriers.
Illi S, Depner M, Pfefferle PI, Renz H, Roduit C, Taft DH, Kalanetra KM, Mills DA, Farquharson FM, Louis P, Schmausser-Hechfellner E, Divaret-Chauveau A, Lauener R, Karvonen AM, Pekkanen J, Kirjavainen PV, Roponen M, Riedler J, Kabesch M, Schaub B, von Mutius E; PASTURE Study Group. Illi S, et al. Among authors: depner m. Am J Respir Crit Care Med. 2022 Mar 15;205(6):641-650. doi: 10.1164/rccm.202106-1458OC. Am J Respir Crit Care Med. 2022. PMID: 34919021
CHildhood Allergy and tolerance: Biomarkers and Predictors (CHAMP) and quality of life.
Eckert JK, Kahle J, Böck A, Zeber K, Urner K, Greiner W, Kreimeier S, Beyer K, Dobbertin-Welsch J, Hamelmann E, Gellhaus I, Schorlemer C, Kabesch M, Kheiroddin P, von Mutius E, Depner M, Walter D, Hansen G, DeStefano S, Schnadt S, Schaub B; CHAMP Consortium. Eckert JK, et al. Among authors: depner m. Pediatr Allergy Immunol. 2022 Jan;33(1):e13652. doi: 10.1111/pai.13652. Epub 2021 Aug 30. Pediatr Allergy Immunol. 2022. PMID: 34396594 No abstract available.
89 results