Non-Communicable Diseases Research Center, Endocrinology and Metabolism Population Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.
Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
J Clin Immunol. 2024 May 18;44(5):125. doi: 10.1007/s10875-024-01731-8.
Chronic Granulomatous Disease (CGD) is a rare immunodeficiency disorder characterized by impaired phagocytic function, leading to recurrent infections and granuloma formation. Genetic mutations in NADPH oxidase complex components, such as CYBB, NCF1, NCF2, and CYBA genes, contribute to the pathogenesis. This case report explores the possible ocular and hematologic complications associated with CGD.
A 6-year-old girl with a history of vitrectomy, membranotomy, and laser therapy due to congenital blindness (diagnosed with chorioretinopathy) was referred to the hospital with generalized ecchymosis and thrombocytopenia. Diagnostic workup initially suggested chronic immune thrombocytopenic purpura (ITP). Subsequent admissions revealed necrotic wounds, urinary tract infections, and recurrent thrombocytopenia. Suspecting immunodeficiency, tests for CGD, Nitroblue tetrazolium (NBT) and dihydrorhodamine (DHR) were performed. She had a low DHR (6.7), and her NBT test was negative (0.0%). Her whole exome sequencing results confirmed autosomal recessive CGD with a homozygous NCF1 mutation.
This case underscores the diverse clinical manifestations of CGD, including recurrent thrombocytopenia and possible early-onset ocular involvement. The diagnostic challenges highlight the importance of a multidisciplinary approach involving hematologists, immunologists, and ophthalmologists for accurate diagnosis and management. The rare coexistence of ITP in CGD emphasizes the intricate link between immunodeficiency and autoimmunity, requiring tailored therapeutic strategies.
慢性肉芽肿病（CGD）是一种罕见的免疫缺陷病，其特征为吞噬功能受损，导致反复感染和肉芽肿形成。NADPH 氧化酶复合物成分（如 CYBB、NCF1、NCF2 和 CYBA 基因）的基因突变导致发病机制。本病例报告探讨了 CGD 可能与眼部和血液学并发症相关。
一名 6 岁女孩，因先天性失明（诊断为脉络膜视网膜病变）接受了玻璃体切除术、膜切开术和激光治疗，因全身瘀斑和血小板减少症被转诊至医院。初步诊断为慢性免疫性血小板减少性紫癜（ITP）。随后的住院期间发现坏死性伤口、尿路感染和反复血小板减少症。怀疑免疫缺陷，进行 CGD、硝基四唑蓝（NBT）和二氢罗丹明（DHR）检测。她的 DHR 水平较低（6.7），NBT 检测呈阴性（0.0%）。全外显子组测序结果证实她患有常染色体隐性遗传 CGD，伴有 NCF1 基因突变纯合子。
本病例强调了 CGD 的多种临床表现，包括反复血小板减少症和可能的早发性眼部受累。诊断挑战突出了多学科方法的重要性，涉及血液科医生、免疫学家和眼科医生，以进行准确的诊断和管理。CGD 中 ITP 的罕见共存强调了免疫缺陷和自身免疫之间的复杂联系，需要制定量身定制的治疗策略。
