A novel FcγRIIa Q27W gene variant is associated with common variable immune deficiency through defective FcγRIIa downstream signaling

Abstract We identified a novel Q27W FcγRIIa variant that was found more frequently in common variable immunodeficiency (CVID) or CVID-like children. We analyzed the possible functional consequence of the Q27W FcγRIIa mutation in human cells. We used peripheral blood mononuclear cells from Q27W FcγRI...

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Veröffentlicht in:	Clinical immunology (Orlando, Fla.) Fla.), 2014-11, Vol.155 (1), p.108-117
Hauptverfasser:	Flinsenberg, Thijs W.H, Janssen, Willemijn J, Herczenik, Eszter, Boross, Peter, Nederend, Maaike, Jongeneel, Lieneke H, Scholman, Rianne C, Boelens, Jaap-Jan, Maas, Coen, van Gijn, Marielle E, van Montfrans, Joris M, Leusen, Jeanette H, Boes, Marianne
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Allergy and Immunology Calcium - metabolism Child Children Common Variable Immunodeficiency - genetics CVID Fc gamma receptor Gene Expression Regulation - immunology Genetic Variation Humans Immune cell activation Male Mitogen-Activated Protein Kinase Kinases - genetics Mitogen-Activated Protein Kinase Kinases - metabolism Phosphorylation Receptor signaling Receptors, IgG - genetics Receptors, IgG - metabolism Signal Transduction - genetics Susceptibility gene
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