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Case report: A STAT1 gain-of-function mutation causes a syndrome of combined immunodeficiency, autoimmunity and pure red cell aplasia.

• Authors : Xie Y; Department of Rheumatology and Immunology, Children's Hospital of Nanjing Medical University, Nanjing, China.; Shao F

Subjects: Autoimmune Diseases* ; Primary Immunodeficiency Diseases*/Primary Immunodeficiency Diseases*/Primary Immunodeficiency Diseases*/genetics ; Red-Cell Aplasia, Pure*/Red-Cell Aplasia, Pure*/Red-Cell Aplasia, Pure*/genetics

• Source: Frontiers in immunology [Front Immunol] 2022 Aug 29; Vol. 13, pp. 928213. Date of Electronic Publication: 2022 Aug 29 (Print Publication: 2022).Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet

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