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Page 1
Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency.
Li J, Lei WT, Zhang P, Rapaport F, Seeleuthner Y, Lyu B, Asano T, Rosain J, Hammadi B, Zhang Y, Pelham SJ, Spaan AN, Migaud M, Hum D, Bigio B, Chrabieh M, Béziat V, Bustamante J, Zhang SY, Jouanguy E, Boisson-Dupuis S, El Baghdadi J, Aimanianda V, Thoma K, Fliegauf M, Grimbacher B, Korganow AS, Saunders C, Rao VK, Uzel G, Freeman AF, Holland SM, Su HC, Cunningham-Rundles C, Fieschi C, Abel L, Puel A, Cobat A, Casanova JL, Zhang Q, Boisson B. Li J, et al. Among authors: uzel g. J Exp Med. 2021 Nov 1;218(11):e20210566. doi: 10.1084/jem.20210566. Epub 2021 Sep 2. J Exp Med. 2021. PMID: 34473196 Free PMC article.
Viral infections in interferon-gamma receptor deficiency.
Dorman SE, Uzel G, Roesler J, Bradley JS, Bastian J, Billman G, King S, Filie A, Schermerhorn J, Holland SM. Dorman SE, et al. Among authors: uzel g. J Pediatr. 1999 Nov;135(5):640-3. doi: 10.1016/s0022-3476(99)70064-8. J Pediatr. 1999. PMID: 10547254 Free PMC article.
Th1 T-cell and monocyte defects.
Uzel G, Holland SM. Uzel G, et al. Pediatr Clin North Am. 2000 Dec;47(6):1275-89. doi: 10.1016/s0031-3955(05)70271-6. Pediatr Clin North Am. 2000. PMID: 11130996 Review.
Dysfunctional LAD-1 neutrophils and colitis.
Uzel G, Kleiner DE, Kuhns DB, Holland SM. Uzel G, et al. Gastroenterology. 2001 Oct;121(4):958-64. doi: 10.1053/gast.2001.28022. Gastroenterology. 2001. PMID: 11606509
STAT3 mutations in the hyper-IgE syndrome.
Holland SM, DeLeo FR, Elloumi HZ, Hsu AP, Uzel G, Brodsky N, Freeman AF, Demidowich A, Davis J, Turner ML, Anderson VL, Darnell DN, Welch PA, Kuhns DB, Frucht DM, Malech HL, Gallin JI, Kobayashi SD, Whitney AR, Voyich JM, Musser JM, Woellner C, Schäffer AA, Puck JM, Grimbacher B. Holland SM, et al. Among authors: uzel g. N Engl J Med. 2007 Oct 18;357(16):1608-19. doi: 10.1056/NEJMoa073687. Epub 2007 Sep 19. N Engl J Med. 2007. PMID: 17881745 Free article.
167 results