title: Common variable immunodeficiency associated with microdeletion of chromosome 1q42.1-q42.3 and inositol 1,4,5-trisphosphate kinase B (ITPKB) deficiency.
abstract: Common variable immunodeficiency (CVID) is a heterogenous disorder characterized by hypogammaglobulinemia and impaired specific antibody response and increased susceptibility to infections, autoimmunity and malignancies. A number of gene mutations, including ICOS, TACI and BAFF-R, and CD19, CD20, CD21, CD81, MSH5 and LRBA have been described; however, they account for approximately 20-25% of total cases of CVID. In this study, we report a patient with CVID with an intrinsic microdeletion of chromosome 1q42.1-42.3, where gene for inositol 1,3,4, trisphosphate kinase β (ITPKB) is localized. ITPKB has an important role in the development, survival and function of B cells. In this subject, the expression of ITPKB mRNA as well as ITKPB protein was significantly reduced. The sequencing of ITPKB gene revealed three variants, two of them were missense variants and third was a synonymous variant; the significance of each of them in relation to CVID is discussed. This case suggests that a deficiency of ITPKB may have a role in CVID.
authors.affiliation: Programs in Primary Immunodeficiency and Human Aging, Division of Basic and Clinical Immunology, Department of Medicine, University of California , Irvine, CA, USA.
authors.forename: Ankmalika G
authors.initials: AG
authors.lastname: Louis
authors.affiliation: Programs in Primary Immunodeficiency and Human Aging, Division of Basic and Clinical Immunology, Department of Medicine, University of California , Irvine, CA, USA.
authors.forename: Leman
authors.initials: L
authors.lastname: Yel
authors.affiliation: Programs in Primary Immunodeficiency and Human Aging, Division of Basic and Clinical Immunology, Department of Medicine, University of California , Irvine, CA, USA.
authors.forename: Jia N
authors.initials: JN
authors.lastname: Cao
authors.affiliation: Programs in Primary Immunodeficiency and Human Aging, Division of Basic and Clinical Immunology, Department of Medicine, University of California , Irvine, CA, USA.
authors.forename: Sudhanshu
authors.initials: S
authors.lastname: Agrawal
authors.affiliation: Programs in Primary Immunodeficiency and Human Aging, Division of Basic and Clinical Immunology, Department of Medicine, University of California , Irvine, CA, USA.
authors.forename: Sudhir
authors.initials: S
authors.lastname: Gupta