Inflammatory Bowel Disease and T cell Lymphopenia in G6PC3 Deficiency

Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease

Paolo A. Hernandez, Robert J. Gorlin, John N. Lukens et al. · Nature Genetics · 2003 · 705 citations

Life Sciences, Immunology, Molecular Genetics +11

A Syndrome with Congenital Neutropenia and Mutations in<i>G6PC3</i>

Kaan Boztuǧ, Giridharan Appaswamy, Angel Ashikov et al. · New England Journal of Medicine · 2008 · 349 citations · Full text

Medicine, Genetics, Molecular Genetics +17

IgG4-positive plasma cell infiltration in the diagnosis of autoimmune pancreatitis

Lizhi Zhang, Kenji Notohara, Michael J. Levy et al. · Modern Pathology · 2006 · 291 citations · Full text

Life Sciences, Immunology, Pathology +12

Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: Results of the European Study on Glycogen Storage Disease Type I

Gepke Visser, J. P. Rake, John Fernandes et al. · The Journal of Pediatrics · 2000 · 260 citations

Medicine, Hematology, Immunology +17

Prevalence of mutations in <i>ELANE</i>, <i>GFI1</i>, <i>HAX1</i>, <i>SBDS</i>, <i>WAS</i> and <i>G6PC3</i> in patients with severe congenital neutropenia

Jun Xia, Audrey Anna Bolyard, Elin Rodger et al. · British Journal of Haematology · 2009 · 166 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12