NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation
نویسندگان
چکیده
منابع مشابه
Hyper-IgM Immunodeficiency with Enamel Defects: a Case Report
Background: Hyper-Immunoglobulin M (IgM) syndrome (HIGM) is a rare primary immunodeficiency in which defective B-cell isotype switching results in a phenotype characterized by elevated or normal serum IgM levels and low levels of other Ig classes, leading to an increased susceptibility to infection, neutropenia, autoimmune disorders, and malignancies. In this disease, a mutation occurs in the C...
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ژورنال
عنوان ژورنال: Journal of Experimental Medicine
سال: 2020
ISSN: 0022-1007,1540-9538
DOI: 10.1084/jem.20192275