G-CSF drives autoinflammation in APLAID

• Published in: Nature immunology Vol. 24; no. 5; pp. 814 - 826
• Main Authors: Mulazzani, Elisabeth, Kong, Klara, Aróstegui, Juan I., Ng, Ashley P., Ranathunga, Nishika, Abeysekera, Waruni, Garnham, Alexandra L., Ng, Sze-Ling, Baker, Paul J., Jackson, Jacob T., Lich, John D., Hibbs, Margaret L., Wicks, Ian P., Louis, Cynthia, Masters, Seth L.
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.05.2023; Nature Publishing Group
• Subjects: 631/250/127/1210; 631/250/249/2510/2511; 692/699/249/2510/2511; Animals; Biomedical and Life Sciences; Biomedicine; Bone marrow; Bone Marrow Transplantation; Caspase-1; Colony-stimulating factor; Cytokines; Granulocyte Colony-Stimulating Factor; Hematopoietic stem cells; Immunologic Deficiency Syndromes - genetics; Immunologic Deficiency Syndromes - immunology; Immunologic Deficiency Syndromes - metabolism; Immunology; Infectious Diseases; Inflammasomes; Inflammation; Inflammatory diseases; Interleukin 1; Interleukin 6; Janus kinase; Leukocytes (granulocytic); Lymphocytes; Mice; Missense mutation; Mutation; Myelopoiesis; Phospholipase C; Tumor necrosis factor; Tumor Necrosis Factor-alpha - genetics; Tumor necrosis factor-TNF

Missense mutations in PLCG2 can cause autoinflammation with phospholipase C gamma 2-associated antibody deficiency and immune dysregulation (APLAID). Here, we generated a mouse model carrying an APLAID mutation (p.Ser707Tyr) and found that inflammatory infiltrates in the skin and lungs were only par...