因AICDA纯合变异导致高IgM综合征患者出现迟发性淋巴细胞减少和免疫性血小板减少症 - Suppr

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超能文献

Late-Onset Lymphopenia and ITP in a Patient with Hyper IgM Syndrome Due to a Homozygous Variant in AICDA.

作者信息

Adatia Adil, Ritchie Bruce

机构信息

Division of Pulmonary Medicine, Department of Medicine, University of Alberta, Edmonton, AB, Canada.

Division of Hematology, Department of Medicine, University of Alberta, Edmonton, AB, Canada.

出版信息

J Clin Immunol. 2023 Oct;43(7):1540-1542. doi: 10.1007/s10875-023-01546-z. Epub 2023 Jul 4.

DOI:10.1007/s10875-023-01546-z

PMID:37402930

Abstract

摘要

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Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency.

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Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2).

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