Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3
Open Access
- 22 January 2015
- journal article
- case report
- Published by American Society of Hematology in Blood
- Vol. 125 (4) , 639-648
Abstract
Key Points: Germline activating STAT3 mutations were detected in 3 patients with autoimmunity, hypogammaglobulinemia, and mycobacterial disease. T-cell lymphoproliferation, deficiency of regulatory and helper 17 T cells, natural killer cells, dendritic cells, and eosinophils were common.Keywords
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