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Page 1
Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity.
Maccari ME, Wolkewitz M, Schwab C, Lorenzini T, Leiding JW, Aladjdi N, Abolhassani H, Abou-Chahla W, Aiuti A, Azarnoush S, Baris S, Barlogis V, Barzaghi F, Baumann U, Bloomfield M, Bohynikova N, Bodet D, Boutboul D, Bucciol G, Buckland MS, Burns SO, Cancrini C, Cathébras P, Cavazzana M, Cheminant M, Chinello M, Ciznar P, Coulter TI, D'Aveni M, Ekwall O, Eric Z, Eren E, Fasth A, Frange P, Fournier B, Garcia-Prat M, Gardembas M, Geier C, Ghosh S, Goda V, Hammarström L, Hauck F, Heeg M, Heropolitanska-Pliszka E, Hilfanova A, Jolles S, Karakoc-Aydiner E, Kindle GR, Kiykim A, Klemann C, Koletsi P, Koltan S, Kondratenko I, Körholz J, Krüger R, Jeziorski E, Levy R, Le Guenno G, Lefevre G, Lougaris V, Marzollo A, Mahlaoui N, Malphettes M, Meinhardt A, Merlin E, Meyts I, Milota T, Moreira F, Moshous D, Mukhina A, Neth O, Neubert J, Neven B, Nieters A, Nove-Josserand R, Oksenhendler E, Ozen A, Olbrich P, Perlat A, Pac M, Schmid JP, Pacillo L, Parra-Martinez A, Paschenko O, Pellier I, Sefer AP, Plebani A, Plantaz D, Prader S, Raffray L, Ritterbusch H, Riviere JG, Rivalta B, Rusch S, Sakovich I, Savic S, Scheible R, Schleinitz N, Schuetz C, Schulz A, Sediva A, Semeraro M, Sharapova SO,… See abstract for full author list ➔ Maccari ME, et al. Among authors: schwab c. J Allergy Clin Immunol. 2023 Oct;152(4):984-996.e10. doi: 10.1016/j.jaci.2023.06.015. Epub 2023 Jun 28. J Allergy Clin Immunol. 2023. PMID: 37390899
Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects.
Schwab C, Gabrysch A, Olbrich P, Patiño V, Warnatz K, Wolff D, Hoshino A, Kobayashi M, Imai K, Takagi M, Dybedal I, Haddock JA, Sansom DM, Lucena JM, Seidl M, Schmitt-Graeff A, Reiser V, Emmerich F, Frede N, Bulashevska A, Salzer U, Schubert D, Hayakawa S, Okada S, Kanariou M, Kucuk ZY, Chapdelaine H, Petruzelkova L, Sumnik Z, Sediva A, Slatter M, Arkwright PD, Cant A, Lorenz HM, Giese T, Lougaris V, Plebani A, Price C, Sullivan KE, Moutschen M, Litzman J, Freiberger T, van de Veerdonk FL, Recher M, Albert MH, Hauck F, Seneviratne S, Pachlopnik Schmid J, Kolios A, Unglik G, Klemann C, Speckmann C, Ehl S, Leichtner A, Blumberg R, Franke A, Snapper S, Zeissig S, Cunningham-Rundles C, Giulino-Roth L, Elemento O, Dückers G, Niehues T, Fronkova E, Kanderová V, Platt CD, Chou J, Chatila TA, Geha R, McDermott E, Bunn S, Kurzai M, Schulz A, Alsina L, Casals F, Deyà-Martinez A, Hambleton S, Kanegane H, Taskén K, Neth O, Grimbacher B. Schwab C, et al. J Allergy Clin Immunol. 2018 Dec;142(6):1932-1946. doi: 10.1016/j.jaci.2018.02.055. Epub 2018 May 4. J Allergy Clin Immunol. 2018. PMID: 29729943 Free PMC article.
Therapeutic options for CTLA-4 insufficiency.
Egg D, Rump IC, Mitsuiki N, Rojas-Restrepo J, Maccari ME, Schwab C, Gabrysch A, Warnatz K, Goldacker S, Patiño V, Wolff D, Okada S, Hayakawa S, Shikama Y, Kanda K, Imai K, Sotomatsu M, Kuwashima M, Kamiya T, Morio T, Matsumoto K, Mori T, Yoshimoto Y, Dybedal I, Kanariou M, Kucuk ZY, Chapdelaine H, Petruzelkova L, Lorenz HM, Sullivan KE, Heimall J, Moutschen M, Litzman J, Recher M, Albert MH, Hauck F, Seneviratne S, Pachlopnik Schmid J, Kolios A, Unglik G, Klemann C, Snapper S, Giulino-Roth L, Svaton M, Platt CD, Hambleton S, Neth O, Gosse G, Reinsch S, Holzinger D, Kim YJ, Bakhtiar S, Atschekzei F, Schmidt R, Sogkas G, Chandrakasan S, Rae W, Derfalvi B, Marquart HV, Ozen A, Kiykim A, Karakoc-Aydiner E, Králíčková P, de Bree G, Kiritsi D, Seidel MG, Kobbe R, Dantzer J, Alsina L, Armangue T, Lougaris V, Agyeman P, Nyström S, Buchbinder D, Arkwright PD, Grimbacher B. Egg D, et al. Among authors: schwab c. J Allergy Clin Immunol. 2022 Feb;149(2):736-746. doi: 10.1016/j.jaci.2021.04.039. Epub 2021 Jun 7. J Allergy Clin Immunol. 2022. PMID: 34111452 Free article.
Increased Risk for Malignancies in 131 Affected CTLA4 Mutation Carriers.
Egg D, Schwab C, Gabrysch A, Arkwright PD, Cheesman E, Giulino-Roth L, Neth O, Snapper S, Okada S, Moutschen M, Delvenne P, Pecher AC, Wolff D, Kim YJ, Seneviratne S, Kim KM, Kang JM, Ojaimi S, McLean C, Warnatz K, Seidl M, Grimbacher B. Egg D, et al. Among authors: schwab c. Front Immunol. 2018 Sep 10;9:2012. doi: 10.3389/fimmu.2018.02012. eCollection 2018. Front Immunol. 2018. PMID: 30250467 Free PMC article.
Vedolizumab as a successful treatment of CTLA-4-associated autoimmune enterocolitis.
Navarini AA, Hruz P, Berger CT, Hou TZ, Schwab C, Gabrysch A, Higgins R, Frede N, Padberg Sgier BC, Kämpe O, Burgener AV, Marquardsen F, Baldin F, Bigler M, Kistner A, Jauch A, Bignucolo O, Meyer B, Meienberg F, Mehling M, Jeker LT, Heijnen I, Daikeler TD, Gebbers JO, Grimbacher B, Sansom DM, Jeker R, Hess C, Recher M. Navarini AA, et al. Among authors: schwab c. J Allergy Clin Immunol. 2017 Mar;139(3):1043-1046.e5. doi: 10.1016/j.jaci.2016.08.042. Epub 2016 Nov 28. J Allergy Clin Immunol. 2017. PMID: 27908448 No abstract available.
NECTIN4 Amplification Is Frequent in Solid Tumors and Predicts Enfortumab Vedotin Response in Metastatic Urothelial Cancer.
Klümper N, Tran NK, Zschäbitz S, Hahn O, Büttner T, Roghmann F, Bolenz C, Zengerling F, Schwab C, Nagy D, Toma M, Kristiansen G, Heers H, Ivanyi P, Niegisch G, Grunewald CM, Darr C, Farid A, Schlack K, Abbas M, Aydogdu C, Casuscelli J, Mokry T, Mayr M, Niedersüß-Beke D, Rausch S, Dietrich D, Saal J, Ellinger J, Ritter M, Alajati A, Kuppe C, Meeks J, Vera Badillo FE, Nakauma-González JA, Boormans J, Junker K, Hartmann A, Grünwald V, Hölzel M, Eckstein M. Klümper N, et al. Among authors: schwab c. J Clin Oncol. 2024 Apr 24:JCO2301983. doi: 10.1200/JCO.23.01983. Online ahead of print. J Clin Oncol. 2024. PMID: 38657187
PD-L1 as a Urine Biomarker in Renal Cell Carcinoma-A Case Series and Proof-of-Concept Study.
Reimold P, Tosev G, Kaczorowski A, Friedhoff J, Schwab C, Schütz V, Görtz M, Panzer N, Heller M, Aksoy C, Himmelsbach R, Walle T, Zschäbitz S, Jäger D, Duensing A, Stenzinger A, Hohenfellner M, Duensing S. Reimold P, et al. Among authors: schwab c. Diagnostics (Basel). 2024 Mar 30;14(7):741. doi: 10.3390/diagnostics14070741. Diagnostics (Basel). 2024. PMID: 38611655 Free PMC article.
Knock-out of dipeptidase CN2 in human proximal tubular cells disrupts dipeptide and amino acid homeostasis and para- and transcellular solute transport.
Pfeffer T, Krug SM, Kracke T, Schürfeld R, Colbatzky F, Kirschner P, Medert R, Freichel M, Schumacher D, Bartosova M, Zarogiannis SG, Muckenthaler MU, Altamura S, Pezer S, Volk N, Schwab C, Duensing S, Fleming T, Heidenreich E, Zschocke J, Hell R, Poschet G, Schmitt CP, Peters V. Pfeffer T, et al. Among authors: schwab c. Acta Physiol (Oxf). 2024 Apr;240(4):e14126. doi: 10.1111/apha.14126. Epub 2024 Mar 22. Acta Physiol (Oxf). 2024. PMID: 38517248
831 results