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Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency.
Lévy R, Gothe F, Momenilandi M, Magg T, Materna M, Peters P, Raedler J, Philippot Q, Rack-Hoch AL, Langlais D, Bourgey M, Lanz AL, Ogishi M, Rosain J, Martin E, Latour S, Vladikine N, Distefano M, Khan T, Rapaport F, Schulz MS, Holzer U, Fasth A, Sogkas G, Speckmann C, Troilo A, Bigley V, Roppelt A, Dinur-Schejter Y, Toker O, Bronken Martinsen KH, Sherkat R, Somekh I, Somech R, Shouval DS, Kühl JS, Ip W, McDermott EM, Cliffe L, Ozen A, Baris S, Rangarajan HG, Jouanguy E, Puel A, Bustamante J, Alyanakian MA, Fusaro M, Wang Y, Kong XF, Cobat A, Boutboul D, Castelle M, Aguilar C, Hermine O, Cheminant M, Suarez F, Yildiran A, Bousfiha A, Al-Mousa H, Alsohime F, Cagdas D, Abraham RS, Knutsen AP, Fevang B, Bhattad S, Kiykim A, Erman B, Arikoglu T, Unal E, Kumar A, Geier CB, Baumann U, Neven B; CARMIL2 Consortium; Rohlfs M, Walz C, Abel L, Malissen B, Marr N, Klein C, Casanova JL, Hauck F, Béziat V. Lévy R, et al. Among authors: arikoglu t. J Exp Med. 2023 Feb 6;220(2):e20220275. doi: 10.1084/jem.20220275. Epub 2022 Dec 14. J Exp Med. 2023. PMID: 36515678 Free PMC article.
Therapeutic modalities and clinical outcomes in a large cohort with LRBA deficiency and CTLA4 insufficiency.
Taghizade N, Babayeva R, Kara A, Karakus IS, Catak MC, Bulutoglu A, Haskologlu ZS, Akay Haci I, Tunakan Dalgic C, Karabiber E, Bilgic Eltan S, Yorgun Altunbas M, Sefer AP, Sezer A, Kokcu Karadag SI, Arik E, Karali Z, Ozhan Kont A, Tuzer C, Karaman S, Mersin SS, Kasap N, Celik E, Kocacik Uygun DF, Aydemir S, Kiykim A, Aydogmus C, Ozek Yucel E, Celmeli F, Karatay E, Bozkurtlar E, Demir S, Metin A, Karaca NE, Kutukculer N, Aksu G, Guner SN, Keles S, Reisli I, Kendir Demirkol Y, Arikoglu T, Gulez N, Genel F, Kilic SS, Aytekin C, Keskin O, Yildiran A, Ozcan D, Altintas DU, Ardeniz FO, Dogu EF, Ikinciogullari KA, Karakoc-Aydiner E, Ozen A, Baris S. Taghizade N, et al. Among authors: arikoglu t. J Allergy Clin Immunol. 2023 Dec;152(6):1634-1645. doi: 10.1016/j.jaci.2023.08.004. Epub 2023 Aug 16. J Allergy Clin Immunol. 2023. PMID: 37595759
32 results