| Inflammatory bowel disease and mutations affecting the interleukin-10 receptor EO Glocker, D Kotlarz, K Boztug, EM Gertz, AA Schäffer, F Noyan, M Perro, ... New England Journal of Medicine 361 (21), 2033-2045, 2009 | 1819 | 2009 |
| Gene therapy for Wiskott-Aldrich syndrome—long-term efficacy and genotoxicity CJ Braun, K Boztug, A Paruzynski, M Witzel, A Schwarzer, M Rothe, ... Science translational medicine 6 (227), 227ra33-227ra33, 2014 | 695 | 2014 |
| Stem-cell gene therapy for the Wiskott–Aldrich syndrome K Boztug, M Schmidt, A Schwarzer, PP Banerjee, IA Díez, RA Dewey, ... New England Journal of Medicine 363 (20), 1918-1927, 2010 | 675 | 2010 |
| HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease) C Klein, M Grudzien, G Appaswamy, M Germeshausen, I Sandrock, ... Nature genetics 39 (1), 86-92, 2007 | 625 | 2007 |
| Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy D Kotlarz, R Beier, D Murugan, J Diestelhorst, O Jensen, K Boztug, ... Gastroenterology 143 (2), 347-355, 2012 | 563 | 2012 |
| A syndrome with congenital neutropenia and mutations in G6PC3 K Boztug, G Appaswamy, A Ashikov, AA Schäffer, U Salzer, J Diestelhorst, ... New England Journal of Medicine 360 (1), 32-43, 2009 | 416 | 2009 |
| <? mode longauthoraffil?> The Human Phenotype Ontology in 2024: phenotypes around the world MA Gargano, N Matentzoglu, B Coleman, EB Addo-Lartey, ... Nucleic acids research 52 (D1), D1333-D1346, 2024 | 321 | 2024 |
| Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses S Spencer, S Köstel Bal, W Egner, H Lango Allen, SI Raza, CA Ma, ... Journal of Experimental Medicine 216 (9), 1986-1998, 2019 | 226 | 2019 |
| Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies CS Ma, N Wong, G Rao, DT Avery, J Torpy, T Hambridge, J Bustamante, ... Journal of Allergy and Clinical Immunology 136 (4), 993-1006. e1, 2015 | 225 | 2015 |
| Inherited DOCK2 deficiency in patients with early-onset invasive infections K Dobbs, C Domínguez Conde, SY Zhang, S Parolini, M Audry, J Chou, ... New England Journal of Medicine 372 (25), 2409-2422, 2015 | 217 | 2015 |
| CD55 deficiency, early-onset protein-losing enteropathy, and thrombosis A Ozen, WA Comrie, RC Ardy, C Domínguez Conde, B Dalgic, ÖF Beser, ... New England Journal of Medicine 377 (1), 52-61, 2017 | 210 | 2017 |
| Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27 E Salzer, S Daschkey, S Choo, M Gombert, E Santos-Valente, S Ginzel, ... haematologica 98 (3), 473, 2013 | 201 | 2013 |
| 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 | 188 | 2021 |
| JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia K Boztug, PM Järvinen, E Salzer, T Racek, S Mönch, W Garncarz, ... Nature genetics 46 (9), 1021-1027, 2014 | 164 | 2014 |
| Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity KL Willmann, S Klaver, F Doğu, E Santos-Valente, W Garncarz, I Bilic, ... Nature communications 5 (1), 5360, 2014 | 163 | 2014 |
| Early-onset inflammatory bowel disease and common variable immunodeficiency–like disease caused by IL-21 deficiency E Salzer, A Kansu, H Sic, P Májek, A Ikincioğullari, FE Dogu, ... Journal of Allergy and Clinical Immunology 133 (6), 1651-1659. e12, 2014 | 163 | 2014 |
| B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C δ E Salzer, E Santos-Valente, S Klaver, SA Ban, W Emminger, ... Blood, The Journal of the American Society of Hematology 121 (16), 3112-3116, 2013 | 162 | 2013 |
| Interferon-independent, human immunodeficiency virus type 1 gp120-mediated induction of CXCL10/IP-10 gene expression by astrocytes in vivo and in vitro VC Asensio, J Maier, R Milner, K Boztug, C Kincaid, M Moulard, ... Journal of virology 75 (15), 7067-7077, 2001 | 161 | 2001 |
| Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency OK Alkhairy, R Perez-Becker, GJ Driessen, H Abolhassani, ... Journal of Allergy and Clinical Immunology 136 (3), 703-712. e10, 2015 | 159 | 2015 |
| Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations T Lorenzini, M Fliegauf, N Klammer, N Frede, M Proietti, A Bulashevska, ... Journal of Allergy and Clinical Immunology 146 (4), 901-911, 2020 | 157 | 2020 |
