{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T15:45:17Z","timestamp":1758815117892,"version":"3.41.2"},"reference-count":53,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2016,1,22]],"date-time":"2016-01-22T00:00:00Z","timestamp":1453420800000},"content-version":"vor","delay-in-days":21,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clin &amp;amp; Trans Imm"],"published-print":{"date-parts":[[2016,1]]},"abstract":"<jats:p>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 <jats:italic>ICOS<\/jats:italic>, <jats:italic>TACI<\/jats:italic> and <jats:italic>BAFF\u2010R<\/jats:italic>, and <jats:italic>CD19<\/jats:italic>, <jats:italic>CD20<\/jats:italic>, <jats:italic>CD21<\/jats:italic>, <jats:italic>CD81<\/jats:italic>, <jats:italic>MSH5<\/jats:italic> and <jats:italic>LRBA<\/jats:italic> have been described; however, they account for approximately 20\u201325% of total cases of CVID. In this study, we report a patient with CVID with an intrinsic microdeletion of chromosome 1q42.1\u201042.3, where gene for inositol 1,3,4, trisphosphate kinase \u03b2 (<jats:italic>ITPKB<\/jats:italic>) is localized. ITPKB has an important role in the development, survival and function of B cells. In this subject, the expression of <jats:italic>ITPKB<\/jats:italic> mRNA as well as ITKPB protein was significantly reduced. The sequencing of <jats:italic>ITPKB<\/jats:italic> 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 <jats:italic>ITPKB<\/jats:italic> may have a role in CVID.<\/jats:p>","DOI":"10.1038\/cti.2015.41","type":"journal-article","created":{"date-parts":[[2016,1,22]],"date-time":"2016-01-22T08:21:22Z","timestamp":1453450882000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Common variable immunodeficiency associated with microdeletion of chromosome 1q42.1\u2010q42.3 and inositol 1,4,5\u2010trisphosphate kinase B (ITPKB) deficiency"],"prefix":"10.1002","volume":"5","author":[{"given":"Ankmalika G","family":"Louis","sequence":"first","affiliation":[{"name":"Programs in Primary Immunodeficiency and Human Aging, Division of Basic and Clinical Immunology, Department of Medicine, University of California  Irvine CA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leman","family":"Yel","sequence":"additional","affiliation":[{"name":"Programs in Primary 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