Alsharidah Sondus, Elhussein Ahmed, Al-Herz Waleed
Pediatric Hematology Oncology Department, NBK Children's Hospital.
Allergy and Clinical Immunology Unit, Pediatrics Department, Alsabah Hospital, Sabah.
Blood Coagul Fibrinolysis. 2025 Jul 1;36(5):199-203. doi: 10.1097/MBC.0000000000001351. Epub 2025 May 12.
DOCK8 deficiency syndrome, formerly known as autosomal recessive hyper-IgE syndrome (AR-HIES), is a rare combined immunodeficiency disorder characterized by recurrent infections, eczema, eosinophilia, and elevated immunoglobulin E (IgE) levels. We present a case of a 6-year-old girl with DOCK8 deficiency syndrome, who experienced recurrent skin infections and molluscum contagiosum since infancy. Genetic testing confirmed the diagnosis. Due to the high morbidity and mortality associated with DOCK8 deficiency syndrome, she underwent hematopoietic stem cell transplantation (HSCT) from her father. Posttransplant, the patient's skin condition significantly improved, and she achieved full donor chimerism. This case highlights the importance of considering DOCK8 deficiency in patients with recurrent infections, eczema, eosinophilia, and high IgE levels, and the potential curative effect of HSCT for these patients.
DOCK8缺陷综合征，以前称为常染色体隐性高IgE综合征（AR-HIES），是一种罕见的联合免疫缺陷疾病，其特征为反复感染、湿疹、嗜酸性粒细胞增多以及免疫球蛋白E（IgE）水平升高。我们报告了一例6岁患有DOCK8缺陷综合征的女孩，自婴儿期起就经历了反复的皮肤感染和传染性软疣。基因检测确诊了该疾病。由于DOCK8缺陷综合征相关的高发病率和死亡率，她接受了来自其父亲的造血干细胞移植（HSCT）。移植后，患者的皮肤状况显著改善，并实现了完全供体嵌合。该病例突出了对于反复感染、湿疹、嗜酸性粒细胞增多和高IgE水平的患者考虑DOCK8缺陷的重要性，以及HSCT对这些患者的潜在治愈效果。
