| The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency L Gámez-Díaz, D August, P Stepensky, S Revel-Vilk, MG Seidel, M Noriko, ... Journal of Allergy and Clinical Immunology 137 (1), 223-230, 2016 | 300 | 2016 |
| Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation S Revel-Vilk, U Fischer, B Keller, S Nabhani, L Gámez-Díaz, ... Clinical immunology 159 (1), 84-92, 2015 | 113 | 2015 |
| Clinical, immunologic, and molecular spectrum of patients with LPS-responsive beige-like anchor protein deficiency: a systematic review S Habibi, M Zaki-Dizaji, H Rafiemanesh, B Lo, M Jamee, L Gámez-Díaz, ... The Journal of Allergy and Clinical Immunology: in Practice 7 (7), 2379-2386. e5, 2019 | 102 | 2019 |
| Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency MG Seidel, T Hirschmugl, L Gamez-Diaz, W Schwinger, N Serwas, ... Journal of Allergy and Clinical Immunology 135 (5), 1384-1390. e8, 2015 | 79 | 2015 |
| 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 |
| Infancy-Onset T1DM, Short Stature, and Severe Immunodysregulation in Two Siblings With a Homozygous LRBA Mutation F Schreiner, M Plamper, G Dueker, S Schoenberger, L Gámez-Díaz, ... The Journal of Clinical Endocrinology & Metabolism 101 (3), 898-904, 2016 | 50 | 2016 |
| “Immune TOR-opathies,” a novel disease entity in clinical immunology S Jung, L Gámez-Díaz, M Proietti, B Grimbacher Frontiers in immunology 9, 966, 2018 | 43 | 2018 |
| Immunological phenotype of the murine Lrba knockout L Gámez‐Díaz, J Neumann, F Jäger, M Proietti, F Felber, ... Immunology and cell biology 95 (9), 789-802, 2017 | 35 | 2017 |
| Immune checkpoint deficiencies and autoimmune lymphoproliferative syndromes L Gámez-Díaz, B Grimbacher biomedical journal 44 (4), 400-411, 2021 | 33 | 2021 |
| Treatment of infantile inflammatory bowel disease and autoimmunity by allogeneic stem cell transplantation in LPS-responsive beige-like anchor deficiency S Bakhtiar, L Gámez-Díaz, A Jarisch, J Soerensen, B Grimbacher, ... Frontiers in Immunology 8, 52, 2017 | 33 | 2017 |
| Rapid flow cytometry-based test for the diagnosis of lipopolysaccharide responsive beige-like anchor (LRBA) deficiency L Gámez-Díaz, EC Sigmund, V Reiser, W Vach, S Jung, B Grimbacher Frontiers in Immunology 9, 720, 2018 | 31 | 2018 |
| Clinical phenotypes and immunological characteristics of 18 Egyptian LRBA deficiency patients S Meshaal, R El Hawary, R Adel, D Abd Elaziz, A Erfan, S Lotfy, M Hafez, ... Journal of Clinical Immunology 40, 820-832, 2020 | 27 | 2020 |
| Genetic analysis of a cohort of 275 patients with hyper-IgE syndromes and/or chronic mucocutaneous candidiasis N Frede, J Rojas-Restrepo, A Caballero Garcia de Oteyza, M Buchta, ... Journal of clinical immunology 41 (8), 1804-1838, 2021 | 16 | 2021 |
| Different apples, same tree: visualizing current biological and clinical insights into CTLA-4 insufficiency and LRBA and DEF6 deficiencies L Gámez-Díaz, MG Seidel Frontiers in pediatrics 9, 662645, 2021 | 16 | 2021 |
| A novel LPS-responsive beige-like anchor protein (LRBA) mutation presents with normal cytotoxic T lymphocyte-associated protein 4 (CTLA-4) and overactive TH17 immunity M De Bruyne, DJ Bogaert, K Venken, L Van den Bossche, C Bonroy, ... Journal of Allergy and Clinical Immunology 142 (6), 1968-1971, 2018 | 16 | 2018 |
| Monogenic diabetes not caused by mutations in mody genes: a very heterogenous group of diabetes Z Şıklar, E De Franco, MB Johnson, SE Flanagan, S Ellard, S Ceylaner, ... Experimental and Clinical Endocrinology & Diabetes 126 (10), 612-618, 2018 | 14 | 2018 |
| Case report: refractory autoimmune gastritis responsive to abatacept in LRBA deficiency V Boz, E Valencic, M Girardelli, A Pin, L Gàmez-Diaz, A Tommasini, ... Frontiers in Immunology 12, 619246, 2021 | 10 | 2021 |
| ARPC5 deficiency leads to severe early-onset systemic inflammation and mortality E Sindram, A Caballero-Oteyza, N Kogata, S Chor Mei Huang, Z Alizadeh, ... Disease models & mechanisms 16 (7), 2023 | 7 | 2023 |
| Inborn errors of immunity associated with defects of self‐tolerance checkpoints: The CD28 family J Rush‐Kittle, L Gámez‐Díaz, B Grimbacher Pediatric Allergy and Immunology 33 (12), e13886, 2022 | 7 | 2022 |
| Novel LRBA Mutation and Possible Germinal Mosaicism in a Slavic Family SO Sharapova, E Haapaniemi, IS Sakovich, J Rojas, L Gámez-Díaz, ... Journal of Clinical Immunology 38 (4), 471-474, 2018 | 7 | 2018 |
