Department of Paediatrics, University Medical Centre Ulm, Ulm, Germany.
Institute for Transfusion Medicine, University of Ulm, Ulm, Germany.
Br J Haematol. 2018 Mar;180(5):644-653. doi: 10.1111/bjh.15045. Epub 2017 Dec 21.
Reticular Dysgenesis is a rare immunodeficiency which is clinically characterized by the combination of Severe Combined Immunodeficiency (SCID) with agranulocytosis and sensorineural deafness. Mutations in the gene encoding adenylate kinase 2 (AK2) were identified to cause this phenotype. In this review, we will demonstrate important clinical differences between reticular dysgenesis and other SCID entities and summarize recent concepts in the understanding of the pathophysiology of the disease and the management strategies for this difficult condition.
网状发育不良是一种罕见的免疫缺陷病，其临床特征为严重联合免疫缺陷（SCID）伴粒细胞缺乏和感觉神经性耳聋。研究发现，编码腺苷酸激酶 2（AK2）的基因突变可导致这种表型。在这篇综述中，我们将展示网状发育不良与其他 SCID 实体之间的重要临床差异，并总结目前对疾病病理生理学的认识和治疗这种棘手疾病的策略。
