Julie E. Niemela

Immune dysregulation in human subjects with heterozygous germline mutations in <i>CTLA4</i>

Hye Sun Kuehn, Weiming Ouyang, Bernice Lo et al. · Science · 2014 · 823 citations

Immunodeficiencies, Genetics, Immunology +21

Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency

C. Lucas, Hye Sun Kuehn, Fang Zhao et al. · Nature Immunology · 2013 · 647 citations · Full text

T Cell Senescence, Signal Transduction, Cell Regulation +7

Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations

Joshua D. Milner, Tiphanie P. Vogel, Lisa R. Forbes et al. · Blood · 2014 · 544 citations · Full text

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

Alexandra Y. Kreins, Michael J. Ciancanelli, Satoshi Okada et al. · The Journal of Experimental Medicine · 2015 · 349 citations

Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

Elise M. N. Ferré, Stacey Rose, Sergio D. Rosenzweig et al. · JCI Insight · 2016 · 296 citations · Full text