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Page 1
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: somekh i. 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.
Novel Mutations in RASGRP1 are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma.
Somekh I, Marquardt B, Liu Y, Rohlfs M, Hollizeck S, Karakukcu M, Unal E, Yilmaz E, Patiroglu T, Cansever M, Frizinsky S, Vishnvenska-Dai V, Rechavi E, Stauber T, Simon AJ, Lev A, Klein C, Kotlarz D, Somech R. Somekh I, et al. J Clin Immunol. 2018 Aug;38(6):699-710. doi: 10.1007/s10875-018-0533-8. Epub 2018 Jul 20. J Clin Immunol. 2018. PMID: 30030704
Correction to: Novel Mutations in RASGRP1 Are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma.
Somekh I, Marquardt B, Liu Y, Rohlfs M, Hollizeck S, Karakukcu M, Unal E, Yilmaz E, Patiroglu T, Cansever M, Frizinsky S, Vishnvenskia-Dai V, Rechavi E, Stauber T, Simon AJ, Lev A, Klein C, Kotlarz D, Somech R. Somekh I, et al. J Clin Immunol. 2018 Aug;38(6):711. doi: 10.1007/s10875-018-0541-8. J Clin Immunol. 2018. PMID: 30099695
A Rare Case of Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS) Presenting With Hemophagocytosis Complicated With Hodgkin Lymphoma.
Cansever M, Zietara N, Chiang SCC, Ozcan A, Yilmaz E, Karakukcu M, Rohlfs M, Somekh I, Canoz O, Abdulrezzak U, Bryceson Y, Klein C, Unal E, Patiroglu T. Cansever M, et al. Among authors: somekh i. J Pediatr Hematol Oncol. 2020 Mar;42(2):156-159. doi: 10.1097/MPH.0000000000001487. J Pediatr Hematol Oncol. 2020. PMID: 31033788
The Clinician Scientist, a Distinct and Disappearing Entity.
Somekh I, Somekh E, Pettoello-Mantovani M, Somech R. Somekh I, et al. Among authors: somekh e. J Pediatr. 2019 Sep;212:252-253.e2. doi: 10.1016/j.jpeds.2019.06.063. J Pediatr. 2019. PMID: 31439168 No abstract available.
CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis.
Somekh I, Thian M, Medgyesi D, Gülez N, Magg T, Gallón Duque A, Stauber T, Lev A, Genel F, Unal E, Simon AJ, Lee YN, Kalinichenko A, Dmytrus J, Kraakman MJ, Schiby G, Rohlfs M, Jacobson JM, Özer E, Akcal Ö, Conca R, Patiroglu T, Karakukcu M, Ozcan A, Shahin T, Appella E, Tatematsu M, Martinez-Jaramillo C, Chinn IK, Orange JS, Trujillo-Vargas CM, Franco JL, Hauck F, Somech R, Klein C, Boztug K. Somekh I, et al. Blood. 2019 Oct 31;134(18):1510-1516. doi: 10.1182/blood.2019000644. Blood. 2019. PMID: 31501153 Free PMC article.
Reply.
Somekh I, Somekh E, Pettoello-Mantovani M, Somech R. Somekh I, et al. Among authors: somekh e. J Pediatr. 2020 Feb;217:220. doi: 10.1016/j.jpeds.2019.10.002. Epub 2019 Oct 31. J Pediatr. 2020. PMID: 31679633 No abstract available.
33 results