Gülbû Uzel

<i>STAT3</i> Mutations in the Hyper-IgE Syndrome

Steven M. Holland, Frank R. DeLeo, Houda Zghal Elloumi et al. · New England Journal of Medicine · 2007 · 1.2K citations · Full text

Life Sciences, Genetics, Immunology +13

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

Hye Sun Kuehn, Weiming Ouyang, Bernice Lo et al. · Science · 2014 · 846 citations

Life Sciences, Genetics, Immunology +17

Combined Immunodeficiency Associated with <i>DOCK8</i> Mutations

Qian Zhang, Jeremiah C. Davis, Ian T. Lamborn et al. · New England Journal of Medicine · 2009 · 733 citations · Full text

Life Sciences, Immunology, Infectious Diseases +16

GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity

Michael A. Spinner, Lauren A. Sanchez, Amy P. Hsu et al. · Blood · 2013 · 706 citations · Full text

Life Sciences, Genetics, Immunology +12

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 · 664 citations

Life Sciences, Genetics, Immunology +15