活化的磷脂酰肌醇3-激酶δ综合征

Activated phosphoinositide 3-kinase δ syndrome

活化的磷脂酰肌醇3－激酶δ（PIK3CD）综合征是最近描述的联合免疫缺陷病，由功能获得性PIK3CD突变所致，该基因编码PIK3CD催化亚单位。患者表现为早发的窦肺感染、非肿瘤性的淋巴增殖、疱疹病毒感染、自身炎症疾病、淋巴瘤和神经发育迟缓。高免疫球蛋白（Ig）M、IgG缺陷、CD4淋巴细胞减少是重要的免疫特征。病情严重度变异大，可导致死亡和无症状、临床传递不完全。重症患者可考虑造血干细胞移植。

Activated phosphoinositide 3-kinase δ （PIK3CD） syndrome is a combined immunodeficiency, caused by PIK3CD gain-of-function mutations, which encodes the catalytic subunit of PIK3CD.These patients pre-sented with early onset sinopulmonary infections, lymphoproliferation, herpesvirus infections, autoinflammatory di-sease, lymphoma and mental retardation.Hyper immunoglobulin（Ig）M, IgG deficiency, CD4 lymphopenia were common immunologic features.Variable expression can lead to death and asymptom.Penetrance can be incomplete.Hematopoietic stem cell transplantation should be taken into account for severe cases.