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Page 1
Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry.
Maccari ME, Abolhassani H, Aghamohammadi A, Aiuti A, Aleinikova O, Bangs C, Baris S, Barzaghi F, Baxendale H, Buckland M, Burns SO, Cancrini C, Cant A, Cathébras P, Cavazzana M, Chandra A, Conti F, Coulter T, Devlin LA, Edgar JDM, Faust S, Fischer A, Garcia-Prat M, Hammarström L, Heeg M, Jolles S, Karakoc-Aydiner E, Kindle G, Kiykim A, Kumararatne D, Grimbacher B, Longhurst H, Mahlaoui N, Milota T, Moreira F, Moshous D, Mukhina A, Neth O, Neven B, Nieters A, Olbrich P, Ozen A, Pachlopnik Schmid J, Picard C, Prader S, Rae W, Reichenbach J, Rusch S, Savic S, Scarselli A, Scheible R, Sediva A, Sharapova SO, Shcherbina A, Slatter M, Soler-Palacin P, Stanislas A, Suarez F, Tucci F, Uhlmann A, van Montfrans J, Warnatz K, Williams AP, Wood P, Kracker S, Condliffe AM, Ehl S. Maccari ME, et al. Among authors: mukhina a. Front Immunol. 2018 Mar 16;9:543. doi: 10.3389/fimmu.2018.00543. eCollection 2018. Front Immunol. 2018. PMID: 29599784 Free PMC article.
Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score.
Tesch VK, Abolhassani H, Shadur B, Zobel J, Mareika Y, Sharapova S, Karakoc-Aydiner E, Rivière JG, Garcia-Prat M, Moes N, Haerynck F, Gonzales-Granado LI, Santos Pérez JL, Mukhina A, Shcherbina A, Aghamohammadi A, Hammarström L, Dogu F, Haskologlu S, İkincioğulları AI, Köstel Bal S, Baris S, Kilic SS, Karaca NE, Kutukculer N, Girschick H, Kolios A, Keles S, Uygun V, Stepensky P, Worth A, van Montfrans JM, Peters AMJ, Meyts I, Adeli M, Marzollo A, Padem N, Khojah AM, Chavoshzadeh Z, Avbelj Stefanija M, Bakhtiar S, Florkin B, Meeths M, Gamez L, Grimbacher B, Seppänen MRJ, Lankester A, Gennery AR, Seidel MG; Inborn Errors, Clinical, and Registry Working Parties of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiencies. Tesch VK, et al. Among authors: mukhina a. J Allergy Clin Immunol. 2020 May;145(5):1452-1463. doi: 10.1016/j.jaci.2019.12.896. Epub 2019 Dec 27. J Allergy Clin Immunol. 2020. PMID: 31887391 Free article.
Primary Immunodeficiencies in Russia: Data From the National Registry.
Mukhina AA, Kuzmenko NB, Rodina YA, Kondratenko IV, Bologov AA, Latysheva TV, Prodeus AP, Pampura AN, Balashov DN, Ilyina NI, Latysheva EA, Deordieva EA, Shvets OA, Deripapa EV, Abramova IN, Pashenko OE, Vahlyarskaya SS, Zinovyeva NV, Zimin SB, Skorobogatova EV, Machneva EB, Fomina DS, Ipatova MG, Barycheva LY, Khachirova LS, Tuzankina IA, Bolkov MA, Shakhova NV, Kamaltynova EM, Sibgatullina FI, Guseva MN, Kuznetsova RN, Milichkina AM, Totolian AA, Kalinina NM, Goltsman EA, Sulima EI, Kutlyanceva AY, Moiseeva AA, Khoreva AL, Nesterenko Z, Tymofeeva EV, Ermakova A, Proligina DD, Kalmetieva LR, Davletbaieva GA, Mirsayapova IA, Richkova OA, Kuzmicheva KP, Grakhova MA, Yudina NB, Orlova EA, Selezneva OS, Piskunova SG, Samofalova TV, Bukina TV, Pechkurova AD, Migacheva N, Zhestkov A, Barmina EV, Parfenova NA, Isakova SN, Averina EV, Sazonova IV, Starikova SY, Shilova TV, Asekretova TV, Suprun RN, Kleshchenko EI, Lebedev VV, Demikhova EV, Demikhov VG, Kalinkina VA, Gorenkova AV, Duryagina SN, Pavlova TB, Shinkareva VM, Smoleva IV, Aleksandrova TP, Bambaeva ZV, Philippova MA, Gracheva EM, Tcyvkina GI, Efremenkov AV, Mashkovskaya D, Yarovaya IV, Alekseenko VA, Fisyun IV, Molokova G… See abstract for full author list ➔ Mukhina AA, et al. Front Immunol. 2020 Aug 6;11:1491. doi: 10.3389/fimmu.2020.01491. eCollection 2020. Front Immunol. 2020. PMID: 32849507 Free PMC article.
International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome.
Dimitrova D, Nademi Z, Maccari ME, Ehl S, Uzel G, Tomoda T, Okano T, Imai K, Carpenter B, Ip W, Rao K, Worth AJJ, Laberko A, Mukhina A, Néven B, Moshous D, Speckmann C, Warnatz K, Wehr C, Abolhassani H, Aghamohammadi A, Bleesing JJ, Dara J, Dvorak CC, Ghosh S, Kang HJ, Markelj G, Modi A, Bayer DK, Notarangelo LD, Schulz A, Garcia-Prat M, Soler-Palacín P, Karakükcü M, Yilmaz E, Gambineri E, Menconi M, Masmas TN, Holm M, Bonfim C, Prando C, Hughes S, Jolles S, Morris EC, Kapoor N, Koltan S, Paneesha S, Steward C, Wynn R, Duffner U, Gennery AR, Lankester AC, Slatter M, Kanakry JA. Dimitrova D, et al. Among authors: mukhina a. J Allergy Clin Immunol. 2022 Jan;149(1):410-421.e7. doi: 10.1016/j.jaci.2021.04.036. Epub 2021 May 24. J Allergy Clin Immunol. 2022. PMID: 34033842 Free PMC article.
Rituximab and Abatacept Are Effective in Differential Treatment of Interstitial Lymphocytic Lung Disease in Children With Primary Immunodeficiencies.
Rodina Y, Deripapa E, Shvets O, Mukhina A, Roppelt A, Yuhacheva D, Laberko A, Burlakov V, Abramov D, Tereshchenko G, Novichkova G, Shcherbina A. Rodina Y, et al. Among authors: mukhina a. Front Immunol. 2021 Sep 9;12:704261. doi: 10.3389/fimmu.2021.704261. eCollection 2021. Front Immunol. 2021. PMID: 34566961 Free PMC article. Clinical Trial.
BCG Infection in Patients With Inborn Errors of Immunity Receiving the Russian BCG Strain.
Laberko A, Yukhacheva D, Kan N, Roppelt A, Mukhina A, Rodina Y, Pershin D, Cheng A, Lionakis MS, Solopova G, Kadnikova O, Mushkin A, Novichkova G, Shcherbina A. Laberko A, et al. Among authors: mukhina a. J Allergy Clin Immunol Pract. 2022 Jul;10(7):1797-1804.e7. doi: 10.1016/j.jaip.2022.03.032. Epub 2022 Apr 22. J Allergy Clin Immunol Pract. 2022. PMID: 35470098
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, Velas… See abstract for full author list ➔ Leiding JW, et al. 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.
Care of patients with inborn errors of immunity in thirty J Project countries between 2004 and 2021.
Abolhassani H, Avcin T, Bahceciler N, Balashov D, Bata Z, Bataneant M, Belevtsev M, Bernatowska E, Bidló J, Blazsó P, Boisson B, Bolkov M, Bondarenko A, Boyarchuk O, Bundschu A, Casanova JL, Chernishova L, Ciznar P, Csürke I, Erdős M, Farkas H, Fomina DS, Galal N, Goda V, Guner SN, Hauser P, Ilyina NI, Iremadze T, Iritsyan S, Ismaili-Jaha V, Jesenak M, Kelecic J, Keles S, Kindle G, Kondratenko IV, Kostyuchenko L, Kovzel E, Kriván G, Kuli-Lito G, Kumánovics G, Kurjane N, Latysheva EA, Latysheva TV, Lázár I, Markelj G, Markovic M, Maródi L, Mammadova V, Medvecz M, Miltner N, Mironska K, Modell F, Modell V, Mosdósi B, Mukhina AA, Murdjeva M, Műzes G, Nabieva U, Nasrullayeva G, Naumova E, Nagy K, Onozó B, Orozbekova B, Pac M, Pagava K, Pampura AN, Pasic S, Petrosyan M, Petrovic G, Pocek L, Prodeus AP, Reisli I, Ress K, Rezaei N, Rodina YA, Rumyantsev AG, Sciuca S, Sediva A, Serban M, Sharapova S, Shcherbina A, Sitkauskiene B, Snimshchikova I, Spahiu-Konjusha S, Szolnoky M, Szűcs G, Toplak N, Tóth B, Tsyvkina G, Tuzankina I, Vlasova E, Volokha A. Abolhassani H, et al. Among authors: mukhina aa. Front Immunol. 2022 Dec 16;13:1032358. doi: 10.3389/fimmu.2022.1032358. eCollection 2022. Front Immunol. 2022. PMID: 36605210 Free PMC article.
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: mukhina a. 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 Free article.
Clinical and functional spectrum of RAC2-related immunodeficiency.
Donkó Á, Sharapova SO, Kabat J, Ganesan S, Hauck FH, Bergerson JRE, Marois L, Abbott J, Moshous D, Williams KW, Campbell N, Martin PL, Lagresle-Peyrou C, Trojan T, Kuzmenko NB, Deordieva EA, Raykina EV, Abers MS, Abolhassani H, Barlogis V, Milla C, Hall G, Mousallem T, Church J, Kapoor N, Cros G, Chapdelaine H, Franco-Jarava C, Lopez-Lerma I, Miano M, Leiding JW, Klein C, Stasia MJ, Fischer A, Hsiao KC, Martelius T, Seppänen MRJ, Barmettler S, Walter J, Masmas TN, Mukhina AA, Falcone EL, Kracker S, Shcherbina A, Holland SM, Leto TL, Hsu AP. Donkó Á, et al. Among authors: mukhina aa. Blood. 2024 Apr 11;143(15):1476-1487. doi: 10.1182/blood.2023022098. Blood. 2024. PMID: 38194689
58 results