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

Journal
Frontiers in Pediatrics
ISSN
2296-2360
Date Issued
2019
Author(s)
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
James R. Lupski
Jordan S. Orange
Type
Resource Types::text::journal::journal article
Scopus ID
2-s2.0-85072739385
WoS ID
WOS:000477817500001
DOI
URL
URL Institutional Repository
Cite this document
Aird, A., Lagos, M., Vargas-Hernández, A., Posey, J. E., Coban-Akdemir, Z., Jhangiani, S., Mace, E. M., Reyes, A., King, A., Cavagnaro, F., Forbes, L. R., Chinn, I. K., Lupski, J. R., Orange, J. S., & Poli, M. C. (2019). 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. Frontiers in Pediatrics, 7, 303. https://doi.org/10.3389/fped.2019.00303
Project(s)
Subjects
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