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Julie E. Niemela
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引用次数
引用次数
年份
Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4
HS Kuehn, W Ouyang, B Lo, EK Deenick, JE Niemela, DT Avery, ...
Science 345 (6204), 1623-1627, 2014
9002014
Dominant-activating germline mutations in the gene encoding the PI (3) K catalytic subunit p110δ result in T cell senescence and human immunodeficiency
CL Lucas, HS Kuehn, F Zhao, JE Niemela, EK Deenick, U Palendira, ...
Nature immunology 15 (1), 88-97, 2014
7792014
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations
JD Milner, TP Vogel, L Forbes, CA Ma, A Stray-Pedersen, JE Niemela, ...
Blood, The Journal of the American Society of Hematology 125 (4), 591-599, 2015
5692015
Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome
AY Kreins, MJ Ciancanelli, S Okada, XF Kong, N Ramírez-Alejo, SS Kilic, ...
Journal of Experimental Medicine 212 (10), 1641-1662, 2015
3472015
Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
EMN Ferre, SR Rose, SD Rosenzweig, PD Burbelo, KR Romito, ...
JCI insight 1 (13), 2016
2922016
NRAS mutation causes a human autoimmune lymphoproliferative syndrome
JB Oliveira, N Bidère, JE Niemela, L Zheng, K Sakai, CP Nix, RL Danner, ...
Proceedings of the National Academy of Sciences 104 (21), 8953-8958, 2007
2802007
Loss of B cells in patients with heterozygous mutations in IKAROS
HS Kuehn, B Boisson, C Cunningham-Rundles, J Reichenbach, ...
New England Journal of Medicine 374 (11), 1032-1043, 2016
2532016
Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations
S Price, PA Shaw, A Seitz, G Joshi, J Davis, JE Niemela, K Perkins, ...
Blood, The Journal of the American Society of Hematology 123 (13), 1989-1999, 2014
2412014
Germline hypomorphic CARD11 mutations in severe atopic disease
CA Ma, JR Stinson, Y Zhang, JK Abbott, MA Weinreich, PJ Hauk, ...
Nature genetics 49 (8), 1192-1201, 2017
1992017
Mutations in PIK3CD Can Cause Hyper IgM Syndrome (HIGM) Associated with Increased Cancer Susceptibility
MC Crank, JK Grossman, S Moir, S Pittaluga, CM Buckner, L Kardava, ...
Journal of clinical immunology 34, 272-276, 2014
1812014
Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis
JE Niemela, L Lu, TA Fleisher, J Davis, I Caminha, M Natter, LA Beer, ...
Blood, The Journal of the American Society of Hematology 117 (10), 2883-2886, 2011
1742011
Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome
KC Dowdell, JE Niemela, S Price, J Davis, RL Hornung, JB Oliveira, ...
Blood, The Journal of the American Society of Hematology 115 (25), 5164-5169, 2010
1702010
Histologic features of sinus histiocytosis with massive lymphadenopathy in patients with autoimmune lymphoproliferative syndrome
I Maric, S Pittaluga, JK Dale, JE Niemela, G Delsol, J Diment, J Rosai, ...
The American journal of surgical pathology 29 (7), 903-911, 2005
1672005
Diagnostic paradigm for evaluation of male patients with chronic granulomatous disease, based on the dihydrorhodamine 123 assay
O Jirapongsananuruk, HL Malech, DB Kuhns, JE Niemela, MR Brown, ...
Journal of allergy and clinical immunology 111 (2), 374-379, 2003
1662003
Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency
D Boutboul, HS Kuehn, Z Van de Wyngaert, JE Niemela, I Callebaut, ...
The Journal of clinical investigation 128 (7), 3071-3087, 2018
1472018
Loss-of-function of the protein kinase C δ (PKCδ) causes a B-cell lymphoproliferative syndrome in humans
HS Kuehn, JE Niemela, A Rangel-Santos, M Zhang, S Pittaluga, ...
Blood, The Journal of the American Society of Hematology 121 (16), 3117-3125, 2013
1452013
Hypomorphic Rag mutations can cause destructive midline granulomatous disease
SS De Ravin, EW Cowen, KA Zarember, NL Whiting-Theobald, DB Kuhns, ...
Blood, The Journal of the American Society of Hematology 116 (8), 1263-1271, 2010
1292010
Human nuclear factor κB essential modulator mutation can result in immunodeficiency without ectodermal dysplasia
JS Orange, O Levy, SR Brodeur, K Krzewski, RM Roy, JE Niemela, ...
Journal of allergy and clinical immunology 114 (3), 650-656, 2004
1232004
Targeted NGS: a cost-effective approach to molecular diagnosis of PIDs
JL Stoddard, JE Niemela, TA Fleisher, SD Rosenzweig
Frontiers in immunology 5, 531, 2014
1222014
Using biomarkers to predict the presence of FAS mutations in patients with features of the autoimmune lymphoproliferative syndrome
I Caminha, TA Fleisher, RL Hornung, JK Dale, JE Niemela, S Price, ...
Journal of allergy and clinical immunology 125 (4), 946-949. e6, 2010
1182010
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