P14 deficiency (original) (raw)

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.