Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4–insufficient subjects C Schwab, A Gabrysch, P Olbrich, V Patiño, K Warnatz, D Wolff, ... Journal of Allergy and Clinical Immunology 142 (6), 1932-1946, 2018 | 405 | 2018 |
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 |
Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations LR Forbes, TP Vogel, MA Cooper, J Castro-Wagner, E Schussler, ... Journal of Allergy and Clinical Immunology 142 (5), 1665-1669, 2018 | 238 | 2018 |
Common variable immunodeficiency: epidemiology, pathogenesis, clinical manifestations, diagnosis, classification, and management. R Yazdani, S Habibi, L Sharifi, G Azizi, H Abolhassani, P Olbrich, ... Journal of investigational allergology & clinical immunology 30 (1), 14-34, 2019 | 167 | 2019 |
Clinical, immunological, and genetic features in patients with activated PI3Kδ syndrome (APDS): a systematic review M Jamee, S Moniri, M Zaki-Dizaji, P Olbrich, R Yazdani, F Jadidi-Niaragh, ... Clinical Reviews in Allergy & Immunology 59, 323-333, 2020 | 132 | 2020 |
Identifying functional defects in patients with immune dysregulation due to LRBA and CTLA-4 mutations TZ Hou, N Verma, J Wanders, A Kennedy, B Soskic, D Janman, ... Blood, The Journal of the American Society of Hematology 129 (11), 1458-1468, 2017 | 113 | 2017 |
Aberrant type 1 immunity drives susceptibility to mucosal fungal infections TJ Break, V Oikonomou, N Dutzan, JV Desai, M Swidergall, T Freiwald, ... Science 371 (6526), eaay5731, 2021 | 106 | 2021 |
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 | 100 | 2021 |
Prospective neonatal screening for severe T‐and B‐lymphocyte deficiencies in Seville B de Felipe, P Olbrich, JM Lucenas, C Delgado‐Pecellin, ... Pediatric Allergy and Immunology 27 (1), 70-77, 2016 | 94 | 2016 |
Long-term impact of an educational antimicrobial stewardship program on hospital-acquired candidemia and multidrug-resistant bloodstream infections: a quasi-experimental study … J Molina, G Peñalva, MV Gil-Navarro, J Praena, JA Lepe, ... Clinical Infectious Diseases 65 (12), 1992-1999, 2017 | 91 | 2017 |
Primary immunodeficiency diseases and Bacillus Calmette-Guérin (BCG)-vaccine–derived complications: a systematic review S Fekrvand, R Yazdani, P Olbrich, A Gennery, SD Rosenzweig, ... The Journal of Allergy and Clinical Immunology: In Practice 8 (4), 1371-1386, 2020 | 70 | 2020 |
STAT1 Gain-of-Function Mutations Cause High Total STAT1 Levels With Normal Dephosphorylation O Zimmerman, P Olbrich, AF Freeman, LB Rosen, G Uzel, CS Zerbe, ... Frontiers in immunology 10, 1433, 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 |
STAT1 and STAT3 mutations: important lessons for clinical immunologists P Olbrich, AF Freeman Expert review of clinical immunology 14 (12), 1029-1041, 2018 | 55 | 2018 |
Primary immune regulatory disorders with an autoimmune lymphoproliferative syndrome-like phenotype: immunologic evaluation, early diagnosis and management M López-Nevado, LI González-Granado, R Ruiz-García, D Pleguezuelo, ... Frontiers in immunology 12, 671755, 2021 | 53 | 2021 |
Activated PI 3Kδ syndrome type 2: Two patients, a novel mutation, and review of the literature P Olbrich, M Lorenz, P Cura Daball, JM Lucena, A Rensing‐Ehl, ... Pediatric Allergy and Immunology 27 (6), 640-644, 2016 | 53 | 2016 |
Diagnostic accuracy of the Panbio severe acute respiratory syndrome coronavirus 2 antigen rapid test compared with reverse-transcriptase polymerase chain reaction testing of … S Villaverde, S Domínguez-Rodríguez, G Sabrido, C Pérez-Jorge, M Plata, ... The Journal of pediatrics 232, 287-289. e4, 2021 | 52 | 2021 |
Diagnostic and therapeutic challenges in a child with complete Interferon‐γ Receptor 1 deficiency P Olbrich, MT Martínez‐Saavedra, JM Perez‐Hurtado, C Sanchez, ... Pediatric blood & cancer 62 (11), 2036-2039, 2015 | 37 | 2015 |
A first pilot study on the neonatal screening of primary immunodeficiencies in Spain: TRECS and KRECS identify severe T-and B-cell lymphopaenia P Olbrich, B De Felipe, C Delgado-Pecellin, R Rodero, P Rojas, J Aguayo, ... Anales de Pediatría (English Edition) 81 (5), 310-317, 2014 | 37 | 2014 |
Impact of JAK inhibitors in pediatric patients with STAT1 gain of function (GOF) mutations—10 children and review of the literature A Deyà-Martínez, JG Rivière, P Roxo-Junior, J Ramakers, M Bloomfield, ... Journal of clinical immunology 42 (5), 1071-1082, 2022 | 32 | 2022 |