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, +5

Nature Genetics

Primary ImmunodeficiencyWhim SyndromeAutoimmune DiseaseImmunodeficienciesImmunology +7

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

Kaan Boztuǧ, Giridharan Appaswamy, Angel Ashikov, +23

New England Journal of Medicine

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

Lizhi Zhang, Kenji Notohara, Michael J. Levy, +2

Modern Pathology

Autoimmune DiseaseImmunologyHematologyPathologyHistopathology +6

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, +5

The Journal of Pediatrics

GastroenterologyPathologyClinical GastroenterologyNeutrophil DysfunctionUlcerative Colitis +4

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, +4

British Journal of Haematology

ImmunodeficienciesGeneticsGenetic EpidemiologyImmunologyPathology +19

Impaired apoptotic cell clearance in CGD due to altered macrophage programming is reversed by phosphatidylserine-dependent production of IL-4

Ruby Fernandez-Boyanapalli, S. Courtney Frasch, Kathleen A. McPhillips, +5

Blood

Association of glycogen storage disease 1b and Crohn disease: results of a North American survey

Brian K. Dieckgraefe, Joshua R. Korzenik, Asif Husain, +1

European Journal of Pediatrics

Crohn DiseaseClinical EpidemiologyGastroenterologyClinical GastroenterologyNorth American Survey +5

Lack of glucose recycling between endoplasmic reticulum and cytoplasm underlies cellular dysfunction in glucose-6-phosphatase-β–deficient neutrophils in a congenital neutropenia syndrome

Hyun Sik Jun, Young‐Mock Lee, Yuk Yin Cheung, +5

Blood

G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction

Bu Hayee, Aristotelis Antonopoulos, Emma J. Murphy, +18

Glycobiology

Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis

David H. McDermott, Suk See De Ravin, Hyun Sik Jun, +14

Blood