Fakih Hadi M, Dbouk Abdallah
Pediatrics, Faculty of Medical Sciences, Lebanese University, Beirut, LBN.
Pediatrics, Sheikh Ragheb Harb University Hospital, Toul, LBN.
Cureus. 2024 Apr 30;16(4):e59374. doi: 10.7759/cureus.59374. eCollection 2024 Apr.
Primary immunodeficiency (PID) Disorders include a variable group of diseases that are classified according to the functional defects encountered. Chronic granulomatous disease (CGD) is inherited as an X-linked recessive disorder in many cases, and it is the clinical model of disorders of phagocytosis. Skin and solid organs abscesses are the most common presenting symptoms; we will report the case of a four-day-old boy admitted to our hospital for a neck mass with purulent discharges associated with umbilical stump and circumcision site infection; the diagnosis of CGD was later confirmed by the Dihydrorhodamine (DHR) test that turned out to be positive.
原发性免疫缺陷（PID）疾病包括一组因功能缺陷不同而分类的疾病。慢性肉芽肿病（CGD）在许多情况下呈X连锁隐性遗传，是吞噬细胞疾病的临床模型。皮肤和实体器官脓肿是最常见的首发症状；我们将报告一名4天大男婴的病例，该男婴因颈部肿块伴脓性分泌物入院，伴有脐残端和包皮环切部位感染；后来通过二氢罗丹明（DHR）试验确诊为CGD，结果呈阳性。
