Alemayehu Tinsae, Deribessa Solomie Jebessa
American Medical Center, Specialty Clinic for Infectious Diseases and Travel Medicine, Addis Ababa, Ethiopia.
Department of Pediatrics and Child Health, St. Paul's Hospital and Millennium Medical College, Addis Ababa, Ethiopia.
Case Reports Immunol. 2020 Feb 26;2020:8157212. doi: 10.1155/2020/8157212. eCollection 2020.
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. . 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.
非洲地区关于细胞原发性免疫缺陷的报道很少。迪乔治综合征是一种常见的先天性T细胞缺陷形式。该疾病的特征是胸腺发育不全或发育不良、低钙血症、反复感染以及其他相关的先天性缺陷。我们报告了一名11个月大的婴儿，其出现反复的胸部和腹泻感染、发育不良、淋巴细胞减少、低钙血症以及影像学检查显示胸腺发育不良。在确定CD3和CD4水平极低后，确诊为迪乔治综合征。
我们描述了首例埃塞俄比亚先天性T细胞免疫缺陷儿童的病例报告。我们概述了在资源匮乏地区细胞原发性免疫缺陷疾病的诊断和管理要点。
