著者

Zhihui Liu Pingying Qing Yi Zhao Yi Liu Tony N. Marion

出版者

Tohoku University Medical Press

雑誌

The Tohoku Journal of Experimental Medicine (ISSN:00408727)

巻号頁・発行日

vol.255, no.2, pp.143-146, 2021 (Released:2021-10-20)

参考文献数

11

被引用文献数

3

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Antibody deficiency is a type of primary immunodeficiency that often manifests as primary hypogammaglobulinemia, with or without repeated infections. Although primary immunodeficiency appears to be contrary to autoimmunity, they usually occur simultaneously, and the specific pathogenesis remains unknown. We herein describe an adult patient with autoimmune manifestations and recurrent infections. The case was characterized by a sustained decrease in serum immunoglobulin A, accompanied by decreased T lymphocytes, B lymphocytes, monocytes, and platelets in the peripheral blood and the presence of antinuclear and anti-SSA antibodies. Whole-exome sequencing for the patient revealed two spontaneous mutations in GATA2 (c.1084C>T) and STAT5B (c.1924A>C). This case report provides evidence that mutations in the GATA2 and STAT5B genes may be pathogenic in primary immunodeficiency and provides genetic evidence for the possible pathogenesis of primary immunodeficiency with autoimmune symptoms. However, further studies are needed to confirm the causal relationship.