Article
A novel IKZF1 variant in a family with autosomal dominant CVID: A case for expanding exon coverage in inborn errors of immunity.
Clinical immunology (Orlando, Fla.) - 1 Jul 2024
Stojkic Ivana, Prince Benjamin T, Kuehn Hye Sun, Gil Silva Agustin A, Varga Elizabeth A, Rosenzweig Sergio D, Ramadesikan Swetha, Supinger Rachel, Marhabaie Mohammad, Chang Peter, Mardis Elaine R, Koboldt Daniel C
Abstract excerpt
Common variable immune deficiency (CVID) is a heterogenous group of disorders characterized by varying degrees of hypogammaglobulinemia, recurrent infections, and autoimmunity. Currently, pathogenic variants are identified in approximately 20-30% of CVID cases. Here we report a 3-generation family with autosomal dominant Common Variable Immunodeficiency (CVID) diagnosed in 9 affected individuals. Although primary...
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