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

Case Reports in Immunology
Tinsae Alemayehu, Solomie Jebessa Deribessa

Abstract

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. 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.

References

Mar 9, 2005·American Journal of Medical Genetics. Part a·Donna M McDonald-McGinnElaine H Zackai
Sep 23, 2010·Journal of Clinical Immunology·Reené NaidooBrian S Eley
Dec 2, 2011·Annals of the New York Academy of Sciences·Mohamed-Ridha BarboucheAhmed Aziz Bousfiha
Dec 7, 2013·Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America·Lorry G Rubin Infectious Diseases Society of America
Mar 4, 2014·The Journal of Allergy and Clinical Immunology·UNKNOWN Medical Advisory Committee of the Immune Deficiency FoundationJerry Winkelstein
Jul 6, 2014·BMC Research Notes·Edwin WalongDavid Sabai
Dec 12, 2017·Journal of Clinical Immunology·Aziz BousfihaKathleen E Sullivan

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22q11.2 deletion syndrome, also known as DiGeorge syndrome, is a congenital disorder caused by a partial deletion of chromosome 22. Symptoms include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood, and delayed development. Discover the latest research on this disease here.

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