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遗传性免疫缺陷病

Inborn Errors of Immunity.

作者信息

Baloh Carolyn H, Chong Hey

机构信息

Division of Allergy and Clinical Immunology, Department of Medicine, Harvard Medical School, Brigham and Women's Hospital, 60 Fenwood Road, BTM/Hale Building, 5th Floor, Boston, MA 02115, USA.

Division of Allergy and Immunology, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, 4401 Penn Avenue, AOB 3300, Pittsburgh, PA 15224, USA.

出版信息

Med Clin North Am. 2024 Jul;108(4):703-718. doi: 10.1016/j.mcna.2023.08.006.

Abstract

Inborn errors of immunity occur in 1 in 1000 to 1 in 5000 individuals and are characterized by immune deficiency and immune dysregulation. The primary care provider (PCP) should be familiar with key features of these diagnoses including recurrent and/or severe infections, hyperinflammation, malignancy, and autoimmunity and have a low threshold to refer for evaluation. The PCP can begin a laboratory evaluation before referral by sending a complete blood count (CBC) with differential, antibody levels, vaccine titers, and possibly other tests. Management approaches vary from antibiotic prophylaxis to hematopoietic stem cell transplantation depending on the specific diagnosis.

摘要

遗传性免疫缺陷病在每1000至5000人中就有1人发病,其特征为免疫缺陷和免疫失调。初级保健提供者(PCP)应熟悉这些诊断的关键特征,包括反复和/或严重感染、炎症反应过度、恶性肿瘤和自身免疫,并应在低门槛时就进行转诊评估。PCP在转诊前可通过送检全血细胞计数(CBC)及分类、抗体水平、疫苗滴度以及可能的其他检查来开始实验室评估。根据具体诊断,管理方法从抗生素预防到造血干细胞移植各不相同。

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