| dbo:abstract
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- P14 deficiency is a rare autosomal recessive disease characterized as a primary immunodeficiency syndrome. This disease was first identified within a white Mennonite family by Professor Bodo Grimbacher and Professor Christoph Klein’s teams in 2006. Four out of 15 offspring in this family showed symptoms including short stature, recurrent infection of Streptococcus pneumonia (a typical sign for immunodeficiency), and dysfunction of cells that contain specific lysosome-related organelles, including cytotoxic T cells, melanocytes, and neutrophil granulocytes. After linkage analysis and transcriptional profiling, researchers successfully linked this syndrome with a mutation that can downregulate the LAMTOR2 gene on chromosome. LAMTOR2 gene is responsible for encoding the late endosomal-lysosomal MEK binding partner 1 (MP-1)-interacting protein, also known as p14, which serves as an adaptor protein on the surface membrane of late endosomes. It plays a vital role in regulating the MAPK/ERK signaling pathway and lysosomal biogenesis. Thus, p14 deficiency mainly affects those cells, where the MAPK/ERK signaling and lysosomes/lysosome-related organelles are strongly required for normal function. The p14 deficiency can be accurately diagnosed by sequencing the LAMTOR2 gene, but currently, there is no cure for p14 deficiency. The treatment plans are symptom-based, including antibiotics to target acute bacterial infection and G-CSF to stimulate the neutrophils’ growth to improve patients’ immunity against pathogens. (en)
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