Tohoku J. Exp. Med., 2021 September, 255(2)

Combined Mutation of the GATA2 Gene and STAT5B Gene in a Patient with Hypogammaglobulinemia and Autoimmunity

Zhihui Liu,1 Pingying Qing,1 Yi Zhao,1 Yi Liu1 and Tony N. Marion1,2

1Department of Rheumatology and Immunology, West China Hospital, Sichuan University, Chengdu, Sichuan, China
2Department of Microbiology, Immunology, and Biochemistry, University of Tennessee Health Science Center, Memphis, TN, USA

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.

Keywords —— antibody deficiency; autoimmunity; gene mutations; primary immunodeficiency; whole-exome sequencing


Tohoku J. Exp. Med 2021, 255, 143-146.

Correspondence: Yi Liu, Department of Rheumatology and Immunology, West China Hospital, Sichuan University, No. 37, Guoxue Alley, Chengdu, Sichuan, 610041 China.