title: RAC2 loss-of-function mutation in 2 siblings with characteristics of common variable immunodeficiency.
authors.affiliation: Division of Clinical Immunology and Transfusion Medicine, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden; Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
authors.forename: Omar K
authors.initials: OK
authors.lastname: Alkhairy
authors.affiliation: Research Center for Immunodeficiencies, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran; Department of Immunology, School of Medicine, and Molecular Immunology Research Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Nima
authors.initials: N
authors.lastname: Rezaei
authors.affiliation: Immunology Biomarkers Group, Genentech, South San Francisco, Calif.
authors.forename: Robert R
authors.initials: RR
authors.lastname: Graham
authors.affiliation: Division of Clinical Immunology and Transfusion Medicine, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden; Research Center for Immunodeficiencies, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Hassan
authors.initials: H
authors.lastname: Abolhassani
authors.affiliation: Division of Clinical Immunology and Transfusion Medicine, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden; Translational Centre for Regenerative Medicine (TRM), University of Leipzig, Leipzig, Germany.
authors.forename: Stephan
authors.initials: S
authors.lastname: Borte
authors.affiliation: Division of Clinical Research Centre, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden.
authors.forename: Kjell
authors.initials: K
authors.lastname: Hultenby
authors.affiliation: Division of Clinical Immunology and Transfusion Medicine, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden.
authors.forename: Chenglin
authors.initials: C
authors.lastname: Wu
authors.affiliation: Research Center for Immunodeficiencies, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Asghar
authors.initials: A
authors.lastname: Aghamohammadi
authors.affiliation: Division of Hematology/Oncology, Children's Hospital Boston, and Dana-Farber Cancer Institute, Harvard Medical School, Boston, Mass.
authors.forename: David A
authors.initials: DA
authors.lastname: Williams
authors.affiliation: Immunology Biomarkers Group, Genentech, South San Francisco, Calif.
authors.forename: Timothy W
authors.initials: TW
authors.lastname: Behrens
authors.affiliation: Division of Clinical Immunology and Transfusion Medicine, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden.
authors.forename: Lennart
authors.initials: L
authors.lastname: Hammarström
authors.affiliation: Division of Clinical Immunology and Transfusion Medicine, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden. Electronic address: Qiang.Pan-Hammarstrom@ki.se.
authors.forename: Qiang
authors.initials: Q
authors.lastname: Pan-Hammarström
mesh_terms: D002648:Child; D017074:Common Variable Immunodeficiency / Q000175:diagnosis* / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D009504:Neutrophils / Q000648:ultrastructure; D010375:Pedigree; D035781:Siblings; D020744:rac GTP-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D000097766:RAC2 GTP-Binding Protein
chemical_list: D020744:rac GTP-Binding Proteins; D000097766:RAC2 GTP-Binding Protein