Congenital T Cell Deficiency in a Patient with CHARGE Syndrome

CHARGE syndrome is an autosomal dominant condition caused by mutations in chromodomain helicase DNA-binding 7. We report a patient with molecularly confirmed CHARGE syndrome, which included a congenital T cell deficiency, who was treated with peripheral blood mononuclear cell transplantation.

Saved in:
Bibliographic Details
Published in:The Journal of pediatrics 2009, Vol.154 (1), p.140-142
Main Authors: Hoover-Fong, Julie, MD, PhD, Savage, William J., MD, Lisi, Emily, MS, Winkelstein, Jerry, MD, Thomas, George H., PhD, Hoefsloot, Lies H., PhD, Loeb, David M., MD, PhD
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - immunology
Biological and medical sciences
Choanal Atresia - immunology
DNA Helicases - immunology
DNA-Binding Proteins - immunology
Fatal Outcome
General aspects
Humans
Immunodeficiencies
Immunodeficiencies. Immunoglobulinopathies
Immunopathology
Infant, Newborn
Leukocytes, Mononuclear - transplantation
Lymphocyte Count
Male
Medical sciences
Pediatrics
Sequence Analysis, DNA
Syndrome
T-Lymphocytes - immunology
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:CHARGE syndrome is an autosomal dominant condition caused by mutations in chromodomain helicase DNA-binding 7. We report a patient with molecularly confirmed CHARGE syndrome, which included a congenital T cell deficiency, who was treated with peripheral blood mononuclear cell transplantation.
ISSN:0022-3476
1097-6833
DOI:10.1016/j.jpeds.2008.07.049