| Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: a cohort study E Elkaim, B Neven, J Bruneau, K Mitsui-Sekinaka, A Stanislas, L Heurtier, ... Journal of Allergy and Clinical Immunology 138 (1), 210-218. e9, 2016 | 385 | 2016 |
| Disease evolution and response to rapamycin in activated phosphoinositide 3-kinase δ syndrome: the european society for immunodeficiencies-activated phosphoinositide 3-kinase δ … ME Maccari, H Abolhassani, A Aghamohammadi, A Aiuti, O Aleinikova, ... Frontiers in immunology 9, 543, 2018 | 302 | 2018 |
| Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score VK Tesch, H Abolhassani, B Shadur, J Zobel, Y Mareika, S Sharapova, ... Journal of Allergy and Clinical Immunology 145 (5), 1452-1463, 2020 | 132 | 2020 |
| Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations J Thalhammer, G Kindle, A Nieters, S Rusch, MRJ Seppänen, A Fischer, ... Journal of Allergy and Clinical Immunology 148 (5), 1332-1341. e5, 2021 | 99 | 2021 |
| Heterozygous FOXN1 variants cause low TRECs and severe T cell lymphopenia, revealing a crucial role of FOXN1 in supporting early thymopoiesis M Bosticardo, Y Yamazaki, J Cowan, G Giardino, C Corsino, G Scalia, ... The American Journal of Human Genetics 105 (3), 549-561, 2019 | 61 | 2019 |
| Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome JW Leiding, TP Vogel, VGJ Santarlas, R Mhaskar, MR Smith, A Carisey, ... Journal of allergy and clinical immunology 151 (4), 1081-1095, 2023 | 58 | 2023 |
| Treatment of severe forms of LPS-responsive beige-like anchor protein deficiency with allogeneic hematopoietic stem cell transplantation MG Seidel, K Böhm, F Dogu, A Worth, A Thrasher, B Florkin, ... Journal of Allergy and Clinical Immunology 141 (2), 770-775. e1, 2018 | 57 | 2018 |
| Prevalence and clinical challenges among adult primary immunodeficiency patients with RAG deficiency D Lawless, CB Geier, JR Farmer, HA Lango, D Thwaites, F Atschekzei, ... The Journal of allergy and clinical immunology 141 (6), 2303, 2018 | 40 | 2018 |
| Late-onset combined immune deficiency associated to skin granuloma due to heterozygous compound mutations in RAG1 gene in a 14 years old male SO Sharapova, A Migas, I Guryanova, S Aleshkevich, S Kletski, ... Human Immunology 74 (1), 18-22, 2013 | 40 | 2013 |
| Heterozygous activating mutation in RAC2 causes infantile-onset combined immunodeficiency with susceptibility to viral infections SO Sharapova, E Haapaniemi, IS Sakovich, LV Kostyuchenko, A Donko, ... Clinical Immunology 205, 1-5, 2019 | 33 | 2019 |
| Geographical Distribution, Incidence, Malignancies, and Outcome of 136 Eastern Slavic Patients With Nijmegen Breakage Syndrome and NBN Founder Variant c … SO Sharapova, OE Pashchenko, AV Bondarenko, SS Vakhlyarskaya, ... Frontiers in Immunology 11, 602482, 2021 | 28 | 2021 |
| Molecular characteristics, clinical and immunologic manifestations of 11 children with Omenn syndrome in East Slavs (Russia, Belarus, Ukraine) SO Sharapova, IE Guryanova, OE Pashchenko, IV Kondratenko, ... Journal of clinical immunology 36, 46-55, 2016 | 24 | 2016 |
| Disease progression of WHIM syndrome in an international cohort of 66 pediatric and adult patients CB Geier, M Ellison, R Cruz, S Pawar, A Leiss-Piller, K Zmajkovicova, ... Journal of clinical immunology 42 (8), 1748-1765, 2022 | 23 | 2022 |
| Partial RAG deficiency in humans induces dysregulated peripheral lymphocyte development and humoral tolerance defect with accumulation of T-bet+ B cells K Csomos, B Ujhazi, P Blazso, JL Herrera, CM Tipton, T Kawai, S Gordon, ... Nature immunology 23 (8), 1256-1272, 2022 | 22 | 2022 |
| Phenotype, genotype, treatment, and survival outcomes in patients with X-linked inhibitor of apoptosis deficiency L Yang, C Booth, C Speckmann, MG Seidel, AJJ Worth, G Kindle, ... Journal of Allergy and Clinical Immunology 150 (2), 456-466, 2022 | 21 | 2022 |
| Expanding the nude SCID/CID phenotype associated with FOXN1 homozygous, compound heterozygous, or heterozygous mutations G Giardino, SO Sharapova, P Ciznar, F Dhalla, L Maragliano, ... Journal of Clinical Immunology 41, 756-768, 2021 | 20 | 2021 |
| Simple measurement of IgA predicts immunity and mortality in ataxia-telangiectasia S Zielen, RP Duecker, S Woelke, H Donath, S Bakhtiar, A Buecker, ... Journal of clinical immunology 41, 1878-1892, 2021 | 17 | 2021 |
| The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries SO Sharapova, M Skomska-Pawliszak, YA Rodina, B Wolska-Kuśnierz, ... Frontiers in immunology 11, 900, 2020 | 16 | 2020 |
| Next generation sequencing revealed DNA ligase IV deficiency in a “developmentally normal” patient with massive brain Epstein–Barr virus-positive diffuse large B-cell lymphoma SO Sharapova, EY Chang, IE Guryanova, IV Proleskovskaya, ... Clinical Immunology 163, 108-110, 2016 | 16 | 2016 |
| Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT C Schuetz, J Gerke, M Ege, J Walter, M Kusters, A Worth, JA Kanakry, ... Blood 141 (7), 713-724, 2023 | 15 | 2023 |
Jolan WalterDivision Chief, Pediatric Allergy/Immunology, University of South Florida and Johns Hopkins All Children's Hospital在 walterszanya.com 的电子邮件经过验证
