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GENATLAS PHENOTYPE

last update : 06-10-2020

Symbol	MPOD
Location	17q22
Name	myeloperoxidase deficiency
Other name(s)	MPO deficiency
Corresponding gene	MPO
Main clinical features	mild immune deficiency infections, recurrent, with disseminated candidiasis in any cases pustular skin disease, and increased prevalence of spondyloarthropathy (PMID: 32758448)) no detectable activity of the lysosomal enzyme myeloperoxidase in neutrophils and monocytes of a patient with disseminated candidiasis
Genetic determination	autosomal recessive
Function/system disorder	defense and immunity
Type	disease

Gene product

Name	myeloperoxidase

Remark(s)