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Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.
Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O'Sullivan M, Pachlopnik Schmid J, Průhová Š, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P… See abstract for full author list ➔ Leiding JW, et al. Among authors: desai mm. J Allergy Clin Immunol. 2023 Apr;151(4):1081-1095. doi: 10.1016/j.jaci.2022.09.002. Epub 2022 Oct 11. J Allergy Clin Immunol. 2023. PMID: 36228738 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.
CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease.
Magg T, Shcherbina A, Arslan D, Desai MM, Wall S, Mitsialis V, Conca R, Unal E, Karacabey N, Mukhina A, Rodina Y, Taur PD, Illig D, Marquardt B, Hollizeck S, Jeske T, Gothe F, Schober T, Rohlfs M, Koletzko S, Lurz E, Muise AM, Snapper SB, Hauck F, Klein C, Kotlarz D. Magg T, et al. Among authors: desai mm. Inflamm Bowel Dis. 2019 Oct 18;25(11):1788-1795. doi: 10.1093/ibd/izz103. Inflamm Bowel Dis. 2019. PMID: 31115454 Free PMC article.
"FUT2" a potential genetic modifier in NCF1 deficiency.
Bargir UA, Hule GP, Kambli P, Kulkarni M, Donta AK, Taur P, Gorakshakar A, Desai M, Madkaikar MR. Bargir UA, et al. J Allergy Clin Immunol Pract. 2020 Mar;8(3):1097-1099. doi: 10.1016/j.jaip.2019.08.035. Epub 2019 Sep 5. J Allergy Clin Immunol Pract. 2020. PMID: 31494296 No abstract available.
Vanishing Lymphocytes in a Case of Vanishing Bone Disease.
Iyengar VV, Gowri V, Taur P; COE consortium; Desai MM. Iyengar VV, et al. Among authors: desai mm. J Clin Immunol. 2022 Apr;42(3):706-708. doi: 10.1007/s10875-022-01212-w. Epub 2022 Jan 28. J Clin Immunol. 2022. PMID: 35089478 No abstract available.
SLGT2 Inhibitor Rescues Myelopoiesis in G6PC3 Deficiency.
Hiwarkar P, Bargir U, Pandrowala A, Bodhanwala M, Thakker N, Taur P, Madkaikar M, Desai M. Hiwarkar P, et al. J Clin Immunol. 2022 Nov;42(8):1653-1659. doi: 10.1007/s10875-022-01323-4. Epub 2022 Jul 15. J Clin Immunol. 2022. PMID: 35838821
Changing outcomes of stem cell transplantation in primary immunodeficiencies: Results from a tertiary-care charitable trust hospital in Mumbai.
Pandrowala A, Desai M, Madkaikar M, Kulkarni S, Shobhavat L, Mishra J, Jain S, Chandane P, Sehgal K, Chavan S, Karkera P, Bendre P, Thanky A, Rao S, Prabhu S, Bodhanwala M, Agarwal B, Hiwarkar P. Pandrowala A, et al. J Allergy Clin Immunol Glob. 2023 Mar 29;2(3):100105. doi: 10.1016/j.jacig.2023.100105. eCollection 2023 Aug. J Allergy Clin Immunol Glob. 2023. PMID: 37779531 Free PMC article.
479 results