Title of article :
A First Case Report of DiGeorge Syndrome from Ethiopia Highlights Challenges in Identifying and Treating Children withPrimary T-Cell Deficiencies in Low Resource Settings
Author/Authors :
Alemayehu, Tinsae American Medical Center - Specialty Clinic for Infectious Diseases and Travel Medicine - Addis Ababa, Ethiopia , Deribessa, Solomie Jebessa Department of Pediatrics and Child Health - St. Paul’s Hospital and Millennium Medical College - Addis Ababa, Ethiopia
Abstract :
Cellular primary immunodeficiencies are rarely reported from Africa. DiGeorge syndrome is a commonly rec-ognized form of a congenital T-cell deficiency. ,e disorder is characterized by hypoplastic or aplastic thymus, hypocalcemia,recurrent infections, and other associated congenital defects.Case Report. We report an eleven-month-old infant presenting withrecurrent chest and diarrheal infections, failure to thrive, lymphopenia, hypocalcemia, and hypoplastic thymus on imaging. Adiagnosis of DiGeorge syndrome was confirmed after determining very low CD3 and CD4 levels.Conclusions. We describe thefirst case report of an Ethiopian child with a congenital T-cell immunodeficiency. We have outlined essentials for diagnosis andmanagement of cellular primary immunodeficiency disorders in low resource settings
Keywords :
DiGeorge Syndrome , Ethiopia Highlights Challenges , Identifying , Treating Children , Primary T-Cell Deficiencies , Low Resource Settings
Journal title :
Case Reports in Immunology
