Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome - Alejandra Aird; Macarena Lagos; Alexander Vargas-Hernández; Jennifer E. Posey; Zeynep Coban-Akdemir; Shalini Jhangiani; Emily M. Mace; Anaid Reyes; Alejandra King; Felipe Cavagnaro; Lisa R. Forbes; Ivan K. Chinn; et al. (My University, 2019)
Keywords: primary immunodeficiency; nf-kappa b2; common variable immunodeficiency (cvid); nephrotic syndrome; systemic cytomegalovirus; pituitary deficiency; nk cell deficiency; corticotropin; cotrimoxazole; cyclosporine; foscarnet; ganciclovir; glucocorticoid; hydrocortisone; immunoglobulin; immunoglobulin enhancer binding protein; mycophenolate mofetil; nuclear factor kappa b subunit 2; phytohemagglutinin; steroid; unclassified drug; acute kidney failure; adolescent; alopecia; antibiotic prophylaxis; antibody titer; antiviral resistance; antiviral therapy; article; atopic dermatitis; b lymphocyte; carboxy terminal sequence; case report; cell maturation; child; chromium release assay; clinical article; common variable immunodeficiency; corticotropin blood level; cytomegalovirus; cytomegalovirus infection; ectodermal dysplasia; female; focal glomerulosclerosis; gastroenteritis; generalized edema; hair loss; heterozygote; histology; hormone substitution; human; human tissue; hydrocortisone blood level; immunofluorescence; immunoglobulin deficiency; immunosuppressive treatment; kidney biopsy; lower respiratory tract infection; lung lavage; multiple organ failure; nail disease; natural killer cell; natural killer cell mediated cytotoxicity; nephrotic syndrome; nonsense mediated mrna decay; nonsense mutation; onset age; pituitary function test; pneumocystis jiroveci; pneumocystis pneumonia; pneumonia; preschool child; proteinuria; recurrent infection; relapse; sanger sequencing; school child; steroid therapy; systemic therapy; trachyonychia; treatment response; viral upper respiratory tract infection; virus reactivation; whole exome sequencing