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

Autor: Tinsae Alemayehu, Solomie Jebessa Deribessa
Jazyk: angličtina
Rok vydání: 2020
Předmět:
Zdroj: Case Reports in Immunology, Vol 2020 (2020)
Druh dokumentu: article
ISSN: 2090-6609
2090-6617
DOI: 10.1155/2020/8157212
Popis: 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.
Databáze: Directory of Open Access Journals
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