A First Case Report of DiGeorge Syndrome from Ethiopia Highlights Challenges in Identifying and Treating Children with Primary T-Cell Deficiencies in Low Resource Settings

Abstract EN

Background.

Cellular primary immunodeficiencies are rarely reported from Africa.

DiGeorge syndrome is a commonly recognized form of a congenital T-cell deficiency.

The 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 with recurrent chest and diarrheal infections, failure to thrive, lymphopenia, hypocalcemia, and hypoplastic thymus on imaging.

A diagnosis of DiGeorge syndrome was confirmed after determining very low CD3 and CD4 levels.

Conclusions.

We describe the first case report of an Ethiopian child with a congenital T-cell immunodeficiency.

We have outlined essentials for diagnosis and management of cellular primary immunodeficiency disorders in low resource settings.